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dbVar

Database of genomic structural variation

nsv5647213

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: 118 SVs from 28 studies. See in: genome view

Submitted genomic94,591,554-94,591,554

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5647213	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	94,591,554	94,591,554
nsv5647213	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	95,057,891	95,057,891

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17098663	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
nssv17098663	Submitted genomic		NC_000014.9:g.9459 1554_94591555ins59	GRCh38 (hg38)		NC_000014.9	Chr14	94,591,554	94,591,554
nssv17098663	Remapped	Perfect	NC_000014.8:g.9505 7891_95057892ins59	GRCh37.p13	First Pass	NC_000014.8	Chr14	95,057,891	95,057,891

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.

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