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dbVar

Database of genomic structural variation

nsv4368612

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:43,623

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: 201 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):2,229,071-2,272,693

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4368612	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,229,071	2,272,693
nsv4368612	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	36,350,006	36,393,628

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15622450	copy number gain	1-1034-003	SNP array	Genotyping	30
nssv15636063	copy number gain	13-0099-002	SNP array	Genotyping	33
nssv15640782	copy number gain	14-0382-002	SNP array	Genotyping	25
nssv15643975	copy number gain	16-1009-002	SNP array	Genotyping	30
nssv15651987	copy number gain	2-1502-002	SNP array	Genotyping	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15622450	Remapped	Perfect	NT_187614.1:g.(?_2 229071)_(2272693_? )dup	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,229,071	2,272,693
nssv15636063	Remapped	Perfect	NT_187614.1:g.(?_2 229071)_(2272693_? )dup	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,229,071	2,272,693
nssv15640782	Remapped	Perfect	NT_187614.1:g.(?_2 229071)_(2272693_? )dup	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,229,071	2,272,693
nssv15643975	Remapped	Perfect	NT_187614.1:g.(?_2 229071)_(2272693_? )dup	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,229,071	2,272,693
nssv15651987	Remapped	Perfect	NT_187614.1:g.(?_2 229071)_(2272693_? )dup	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,229,071	2,272,693
nssv15622450	Submitted genomic		NC_000017.10:g.(?_ 36350006)_(3639362 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	36,350,006	36,393,628
nssv15636063	Submitted genomic		NC_000017.10:g.(?_ 36350006)_(3639362 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	36,350,006	36,393,628
nssv15640782	Submitted genomic		NC_000017.10:g.(?_ 36350006)_(3639362 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	36,350,006	36,393,628
nssv15643975	Submitted genomic		NC_000017.10:g.(?_ 36350006)_(3639362 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	36,350,006	36,393,628
nssv15651987	Submitted genomic		NC_000017.10:g.(?_ 36350006)_(3639362 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	36,350,006	36,393,628

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

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