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dbVar

Database of genomic structural variation

nsv4386169

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:34,852

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: 1027 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):11,064,411-11,099,262

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4386169	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	11,064,411	11,099,262
nsv4386169	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	11,217,010	11,251,861

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15624732	copy number loss	1-0340-001	SNP array	Genotyping	15
nssv15642611	copy number loss	15-1133-002	SNP array	Genotyping	14
nssv15679976	copy number loss	229188S	SNP array	Genotyping	30

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15624732	Remapped	Perfect	NC_000012.12:g.(?_ 11064411)_(1109926 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,064,411	11,099,262
nssv15642611	Remapped	Perfect	NC_000012.12:g.(?_ 11064411)_(1109926 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,064,411	11,099,262
nssv15679976	Remapped	Perfect	NC_000012.12:g.(?_ 11064411)_(1109926 2_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,064,411	11,099,262
nssv15624732	Submitted genomic		NC_000012.11:g.(?_ 11217010)_(1125186 1_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,217,010	11,251,861
nssv15642611	Submitted genomic		NC_000012.11:g.(?_ 11217010)_(1125186 1_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,217,010	11,251,861
nssv15679976	Submitted genomic		NC_000012.11:g.(?_ 11217010)_(1125186 1_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,217,010	11,251,861

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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