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

dbVar

Database of genomic structural variation

nsv5644246

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Ebert et al. 2021

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: 86 SVs from 20 studies. See in: genome view

Submitted genomic173,116,752-173,116,752

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5644246	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	173,116,752	173,116,752
nsv5644246	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	172,543,755	172,543,755

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17129500	insertion	NA12329	Sequencing	Sequence alignment	1,517

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17129500	Submitted genomic		NC_000005.10:g.173 116752_173116753in s120	GRCh38 (hg38)		NC_000005.10	Chr5	173,116,752	173,116,752
nssv17129500	Remapped	Perfect	NC_000005.9:g.1725 43755_172543756ins 120	GRCh37.p13	First Pass	NC_000005.9	Chr5	172,543,755	172,543,755

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI