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dbVar

Database of genomic structural variation

nsv4388545

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:24,453

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: 459 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):2,037,494-2,061,946

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4388545	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nsv4388545	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	2,037,608	2,062,060

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15619840	copy number loss	1-0910-003	SNP array	Genotyping	22
nssv15625386	copy number loss	1-0345-001	SNP array	Genotyping	27
nssv15625630	copy number loss	1-0345-003	SNP array	Genotyping	25
nssv15636021	copy number loss	12-8257-002	SNP array	Genotyping	17
nssv15649512	copy number loss	2-1453-003	SNP array	Genotyping	22
nssv15655188	copy number loss	2-1692-003	SNP array	Genotyping	17
nssv15660380	copy number loss	3-0727-000	SNP array	Genotyping	25
nssv15666920	copy number loss	7-0142-003	SNP array	Genotyping	23
nssv15671198	copy number loss	7-0273-003	SNP array	Genotyping	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15619840	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15625386	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15625630	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15636021	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15649512	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15655188	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15660380	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15666920	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15671198	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061946_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,946
nssv15619840	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15625386	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15625630	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15636021	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15649512	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15655188	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15660380	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15666920	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060
nssv15671198	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062060_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,060

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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