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dbVar

Database of genomic structural variation

nsv7141182

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:56

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: 196 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):2,191,829-2,191,884

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7141182	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	2,191,829	2,191,884
nsv7141182	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_018654718.1	Chr12\|NW_0 18654718.1	533,973	534,028
nsv7141182	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000012.11	Chr12	2,300,995	2,301,050

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18833903	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18833903	Remapped	Perfect	NW_018654718.1:g.5 33973_534028del	GRCh38.p12	Second Pass	NW_018654718.1	Chr12\|NW_0 18654718.1	533,973	534,028
nssv18833903	Remapped	Perfect	NC_000012.12:g.219 1829_2191884del	GRCh38.p12	First Pass	NC_000012.12	Chr12	2,191,829	2,191,884
nssv18833903	Submitted genomic		NC_000012.11:g.230 0995_2301050del	GRCh37.p13		NC_000012.11	Chr12	2,300,995	2,301,050

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)
nssv18833903	0.5	3	6

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