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dbVar

Database of genomic structural variation

nsv4384081

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:24,441

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):2,037,494-2,061,934

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4384081	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nsv4384081	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	2,037,608	2,062,048

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15615916	copy number loss	1-0804-003	SNP array	Genotyping	20
nssv15625680	copy number loss	1-0345-005	SNP array	Genotyping	31
nssv15633771	copy number loss	12-4404-001	SNP array	Genotyping	26
nssv15634713	copy number loss	12-4404-003	SNP array	Genotyping	28
nssv15634905	copy number loss	12-4404-004	SNP array	Genotyping	25
nssv15636003	copy number loss	12-8257-001	SNP array	Genotyping	28
nssv15689052	copy number loss	228234	SNP array	Genotyping	24
nssv15691519	copy number loss	OCD52-S_0625-8219-1	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15615916	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15625680	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15633771	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15634713	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15634905	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15636003	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15689052	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15691519	Remapped	Perfect	NC_000005.10:g.(?_ 2037494)_(2061934_ ?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	2,037,494	2,061,934
nssv15615916	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048
nssv15625680	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048
nssv15633771	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048
nssv15634713	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048
nssv15634905	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048
nssv15636003	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048
nssv15689052	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048
nssv15691519	Submitted genomic		NC_000005.9:g.(?_2 037608)_(2062048_? )del	GRCh37 (hg19)		NC_000005.9	Chr5	2,037,608	2,062,048

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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