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

dbVar

Database of genomic structural variation

nsv7072247

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:62,973

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: 3487 SVs from 95 studies. See in: genome view

Submitted genomic106,208,271-106,271,243

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7072247	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	106,208,271	106,271,243
nsv7072247	Remapped	Perfect	GRCh37.p13	PATCHES	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	871,438	934,410

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18754244	inversion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18754244	Submitted genomic		NC_000014.9:g.1062 08271_106271243inv	GRCh38 (hg38)		NC_000014.9	Chr14	106,208,271	106,271,243
nssv18754244	Remapped	Perfect	NW_004166863.1:g.8 71438_934410inv	GRCh37.p13	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	871,438	934,410

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)
nssv18754244	7e-06	2	275090

You are here: NCBI