nsv4376563

Organism: Homo sapiens

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

Variant Calls:12
Validation:Not tested
Clinical Assertions: No
Region Size:27,725

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: 368 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):177,800,227-177,827,951

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4376563	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nsv4376563	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	177,227,228	177,254,952

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15622338	copy number gain	1-1028-003	SNP array	Genotyping	22
nssv15626401	copy number gain	1-0051-005	SNP array	Genotyping	20
nssv15629335	copy number gain	1-0541-003	SNP array	Genotyping	17
nssv15630600	copy number gain	1-0597-003	SNP array	Genotyping	20
nssv15630809	copy number gain	1-0625-003	SNP array	Genotyping	15
nssv15644904	copy number gain	2-0244-004	SNP array	Genotyping	19
nssv15651669	copy number gain	2-1528-002	SNP array	Genotyping	26
nssv15663811	copy number gain	5-0126-002	SNP array	Genotyping	27
nssv15673990	copy number gain	9-0026-002	SNP array	Genotyping	25
nssv15675012	copy number gain	208031	SNP array	Genotyping	18
nssv15699230	copy number gain	205285	SNP array	Genotyping	18
nssv15700179	copy number gain	183790	SNP array	Genotyping	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15622338	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15626401	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15629335	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15630600	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15630809	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15644904	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15651669	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15663811	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15673990	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15675012	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15699230	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15700179	Remapped	Perfect	NC_000005.10:g.(?_ 177800227)_(177827 951_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	177,800,227	177,827,951
nssv15622338	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15626401	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15629335	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15630600	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15630809	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15644904	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15651669	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15663811	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15673990	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15675012	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15699230	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952
nssv15700179	Submitted genomic		NC_000005.9:g.(?_1 77227228)_(1772549 52_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	177,227,228	177,254,952

dbVar

Database of genomic structural variation

nsv4376563

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