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

dbVar

Database of genomic structural variation

nsv5398255

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

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: 125 SVs from 27 studies. See in: genome view

Submitted genomic70,249,187-70,249,238

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5398255	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	70,249,187	70,249,238
nsv5398255	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	70,958,890	70,958,941

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16984562	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16984562	Submitted genomic		NC_000006.12:g.702 49187_70249238ins2 79	GRCh38 (hg38)		NC_000006.12	Chr6	70,249,187	70,249,238
nssv16984562	Remapped	Perfect	NC_000006.11:g.709 58890_70958941ins2 79	GRCh37.p13	First Pass	NC_000006.11	Chr6	70,958,890	70,958,941

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)
nssv16984562	0.068	437	6404

You are here: NCBI