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dbVar

Database of genomic structural variation

nsv4381970

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:64,100

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: 903 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):11,343,886-11,407,985

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4381970	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	11,343,886	11,407,985
nsv4381970	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187658.1	Chr12\|NT_1 87658.1	538,849	572,349
nsv4381970	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	11,496,820	11,560,919

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15619343	copy number loss	1-0898-003	SNP array	Genotyping	19
nssv15667205	copy number loss	7-0151-003	SNP array	Genotyping	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15619343	Remapped	Pass	NT_187658.1:g.(?_5 38849)_(572349_?)d el	GRCh38.p12	Second Pass	NT_187658.1	Chr12\|NT_1 87658.1	538,849	572,349
nssv15667205	Remapped	Pass	NT_187658.1:g.(?_5 38849)_(572349_?)d el	GRCh38.p12	Second Pass	NT_187658.1	Chr12\|NT_1 87658.1	538,849	572,349
nssv15619343	Remapped	Perfect	NC_000012.12:g.(?_ 11343886)_(1140798 5_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,343,886	11,407,985
nssv15667205	Remapped	Perfect	NC_000012.12:g.(?_ 11343886)_(1140798 5_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,343,886	11,407,985
nssv15619343	Submitted genomic		NC_000012.11:g.(?_ 11496820)_(1156091 9_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,496,820	11,560,919
nssv15667205	Submitted genomic		NC_000012.11:g.(?_ 11496820)_(1156091 9_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,496,820	11,560,919

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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