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dbVar

Database of genomic structural variation

nsv6285380

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: 120 SVs from 23 studies. See in: genome view

Submitted genomic40,685,632-40,685,632

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6285380	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	40,685,632	40,685,632
nsv6285380	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	41,191,537	41,191,537

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17940814	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17940814	Submitted genomic		NC_000019.10:g.406 85632_40685633ins7 1	GRCh38 (hg38)		NC_000019.10	Chr19	40,685,632	40,685,632
nssv17940814	Remapped	Perfect	NC_000019.9:g.4119 1537_41191538ins71	GRCh37.p13	First Pass	NC_000019.9	Chr19	41,191,537	41,191,537

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)
nssv17940814	<0.001	1	2342

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