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dbVar

Database of genomic structural variation

nsv6285234

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: 108 SVs from 22 studies. See in: genome view

Submitted genomic40,669,488-40,669,488

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6285234	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	40,669,488	40,669,488
nsv6285234	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	41,175,393	41,175,393

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17955433	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955433	Submitted genomic		NC_000019.10:g.406 69488_40669489ins7 5	GRCh38 (hg38)		NC_000019.10	Chr19	40,669,488	40,669,488
nssv17955433	Remapped	Perfect	NC_000019.9:g.4117 5393_41175394ins75	GRCh37.p13	First Pass	NC_000019.9	Chr19	41,175,393	41,175,393

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)
nssv17955433	<0.001	1	2342

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