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

dbVar

Database of genomic structural variation

nsv5536285

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:36

Publication(s):Byrska-Bishop 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: 97 SVs from 21 studies. See in: genome view

Submitted genomic66,616,691-66,616,726

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5536285	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	66,616,691	66,616,726
nsv5536285	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	66,843,823	66,843,858

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16913941	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16913941	Submitted genomic		NC_000002.12:g.666 16691_66616726ins6 9	GRCh38 (hg38)		NC_000002.12	Chr2	66,616,691	66,616,726
nssv16913941	Remapped	Perfect	NC_000002.11:g.668 43823_66843858ins6 9	GRCh37.p13	First Pass	NC_000002.11	Chr2	66,843,823	66,843,858

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)
nssv16913941	<0.001	2	6404

You are here: NCBI