Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6289783

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: 138 SVs from 21 studies. See in: genome view

Submitted genomic77,380,262-77,380,262

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289783	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	77,380,262	77,380,262
nsv6289783	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	75,376,344	75,376,344

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17932043	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17932043	Submitted genomic		NC_000017.11:g.773 80262_77380263ins6 8	GRCh38 (hg38)		NC_000017.11	Chr17	77,380,262	77,380,262
nssv17932043	Remapped	Perfect	NC_000017.10:g.753 76344_75376345ins6 8	GRCh37.p13	First Pass	NC_000017.10	Chr17	75,376,344	75,376,344

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)
nssv17932043	0.002	5	2154

You are here: NCBI