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dbVar

Database of genomic structural variation

nsv5648242

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

Submitted genomic76,731,539-76,731,539

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5648242	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	76,731,539	76,731,539
nsv5648242	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	74,727,621	74,727,621

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17087216	insertion	SAMN00004622	Sequencing	Sequence alignment	1,208

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17087216	Submitted genomic		NC_000017.11:g.767 31539_76731540ins6 91	GRCh38 (hg38)		NC_000017.11	Chr17	76,731,539	76,731,539
nssv17087216	Remapped	Perfect	NC_000017.10:g.747 27621_74727622ins6 91	GRCh37.p13	First Pass	NC_000017.10	Chr17	74,727,621	74,727,621

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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