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

dbVar

Database of genomic structural variation

nsv6289232

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: 74 SVs from 22 studies. See in: genome view

Submitted genomic48,362,063-48,362,063

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289232	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	48,362,063	48,362,063
nsv6289232	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	48,865,320	48,865,320

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17955461	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955461	Submitted genomic		NC_000019.10:g.483 62063_48362064ins5 8	GRCh38 (hg38)		NC_000019.10	Chr19	48,362,063	48,362,063
nssv17955461	Remapped	Perfect	NC_000019.9:g.4886 5320_48865321ins58	GRCh37.p13	First Pass	NC_000019.9	Chr19	48,865,320	48,865,320

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)
nssv17955461	0.018	41	2318

You are here: NCBI