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

dbVar

Database of genomic structural variation

nsv5948310

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Almarri et al. 2020

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: 117 SVs from 31 studies. See in: genome view

Submitted genomic69,493,158-69,493,158

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5948310	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	69,493,158	69,493,158
nsv5948310	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	69,720,290	69,720,290

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17400308	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17400308	Submitted genomic		NC_000002.12:g.694 93158_69493159ins2 04	GRCh38 (hg38)		NC_000002.12	Chr2	69,493,158	69,493,158
nssv17400308	Remapped	Perfect	NC_000002.11:g.697 20290_69720291ins2 04	GRCh37.p13	First Pass	NC_000002.11	Chr2	69,720,290	69,720,290

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