nsv4367885

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:14
Validation:Not tested
Clinical Assertions: No
Region Size:30,120

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 585 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):53,013,989-53,044,108

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4367885	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nsv4367885	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	53,517,242	53,547,361

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15616829	copy number gain	1-0809-003	SNP array	Genotyping	33
nssv15617344	copy number gain	1-0841-003	SNP array	Genotyping	24
nssv15617958	copy number gain	1-0877-003	SNP array	Genotyping	31
nssv15618429	copy number gain	1-0873-003	SNP array	Genotyping	23
nssv15625086	copy number gain	1-0375-002	SNP array	Genotyping	19
nssv15636909	copy number gain	14-0017-003	SNP array	Genotyping	18
nssv15637092	copy number gain	14-0044-003	SNP array	Genotyping	20
nssv15650462	copy number gain	2-1480-003	SNP array	Genotyping	22
nssv15651837	copy number gain	2-1577-002	SNP array	Genotyping	23
nssv15653772	copy number gain	2-1630-003	SNP array	Genotyping	21
nssv15657964	copy number gain	3-0460-000	SNP array	Genotyping	21
nssv15672658	copy number gain	9-0012-001	SNP array	Genotyping	23
nssv15675337	copy number gain	232813S	SNP array	Genotyping	27
nssv15680716	copy number gain	216162	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15616829	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15617344	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15617958	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15618429	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15625086	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15636909	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15637092	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15650462	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15651837	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15653772	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15657964	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15672658	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15675337	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15680716	Remapped	Perfect	NC_000019.10:g.(?_ 53013989)_(5304410 8_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,013,989	53,044,108
nssv15616829	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15617344	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15617958	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15618429	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15625086	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15636909	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15637092	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15650462	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15651837	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15653772	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15657964	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15672658	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15675337	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361
nssv15680716	Submitted genomic		NC_000019.9:g.(?_5 3517242)_(53547361 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	53,517,242	53,547,361

dbVar

Database of genomic structural variation

nsv4367885

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant