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dbVar

Database of genomic structural variation

nsv7139976

Organism: Homo sapiens

Study:nstd232 (Keane et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:92

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: 337 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):2,130,325-2,130,416

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7139976	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000008.11	Chr8	2,130,325	2,130,416
nsv7139976	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187576.1	Chr8\|NT_18 7576.1	313,523	313,614
nsv7139976	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000008.10	Chr8	2,078,313	2,078,404

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18832698	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18832698	Remapped	Perfect	NT_187576.1:g.3135 23_313614del	GRCh38.p12	First Pass	NT_187576.1	Chr8\|NT_18 7576.1	313,523	313,614
nssv18832698	Remapped	Perfect	NC_000008.11:g.213 0325_2130416del	GRCh38.p12	Second Pass	NC_000008.11	Chr8	2,130,325	2,130,416
nssv18832698	Submitted genomic		NC_000008.10:g.207 8313_2078404del	GRCh37.p13		NC_000008.10	Chr8	2,078,313	2,078,404

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18832698	0.5	1	2

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