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dbVar

Database of genomic structural variation

nsv6289753

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Naslavsky et al. 2022

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: 120 SVs from 15 studies. See in: genome view

Submitted genomic79,656,708-79,656,708

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289753	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	79,656,708	79,656,708
nsv6289753	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871089.1	Chr17\|NW_0 03871089.1	240,714	240,714

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17939172	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17939172	Submitted genomic		NC_000017.11:g.796 56708_79656709ins5 8	GRCh38 (hg38)		NC_000017.11	Chr17	79,656,708	79,656,708
nssv17939172	Remapped	Perfect	NW_003871089.1:g.2 40714_240715ins58	GRCh37.p13	First Pass	NW_003871089.1	Chr17\|NW_0 03871089.1	240,714	240,714

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17939172	0.007	1	138

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