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dbVar

Database of genomic structural variation

nsv6287103

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

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

Publication(s):Naslavsky 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: 135 SVs from 25 studies. See in: genome view

Submitted genomic37,251,771-37,251,771

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6287103	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	37,251,771	37,251,771
nsv6287103	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	37,742,673	37,742,673

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17951683	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17951683	Submitted genomic		NC_000019.10:g.372 51771_37251772ins6 4	GRCh38 (hg38)		NC_000019.10	Chr19	37,251,771	37,251,771
nssv17951683	Remapped	Perfect	NC_000019.9:g.3774 2673_37742674ins64	GRCh37.p13	First Pass	NC_000019.9	Chr19	37,742,673	37,742,673

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)
nssv17951683	<0.001	1	2342

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