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dbVar

Database of genomic structural variation

nsv7139323

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:130

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: 260 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):245,614,863-245,614,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7139323	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	245,614,863	245,614,992
nsv7139323	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187516.1	Chr1\|NT_18 7516.1	309,167	309,296
nsv7139323	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000001.10	Chr1	245,778,165	245,778,294

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18833115	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18833115	Remapped	Perfect	NT_187516.1:g.3091 67_309296del	GRCh38.p12	Second Pass	NT_187516.1	Chr1\|NT_18 7516.1	309,167	309,296
nssv18833115	Remapped	Perfect	NC_000001.11:g.245 614863_245614992de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	245,614,863	245,614,992
nssv18833115	Submitted genomic		NC_000001.10:g.245 778165_245778294de l	GRCh37.p13		NC_000001.10	Chr1	245,778,165	245,778,294

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)
nssv18833115	0.5	1	2

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