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dbVar

Database of genomic structural variation

nsv7142700

Organism: Homo sapiens

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

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

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: 128 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):41,382,200-41,382,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7142700	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	41,382,200	41,382,200
nsv7142700	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_009646194.1	Chr1\|NW_00 9646194.1	131,896	131,896
nsv7142700	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000001.10	Chr1	41,847,872	41,847,872

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18835426	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18835426	Remapped	Perfect	NW_009646194.1:g.1 31896_131897ins200	GRCh38.p12	Second Pass	NW_009646194.1	Chr1\|NW_00 9646194.1	131,896	131,896
nssv18835426	Remapped	Perfect	NC_000001.11:g.413 82200_41382201ins2 00	GRCh38.p12	First Pass	NC_000001.11	Chr1	41,382,200	41,382,200
nssv18835426	Submitted genomic		NC_000001.10:g.418 47872_41847873ins2 00	GRCh37.p13		NC_000001.10	Chr1	41,847,872	41,847,872

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)
nssv18835426	0.5	5	6

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