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dbVar

Database of genomic structural variation

nsv5553733

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:23

Publication(s):Byrska-Bishop 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: 186 SVs from 35 studies. See in: genome view

Submitted genomic54,698,811-54,698,833

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5553733	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	54,698,811	54,698,833
nsv5553733	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	55,164,484	55,164,506

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16903322	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16903322	Submitted genomic		NC_000001.11:g.546 98811_54698833ins3 14	GRCh38 (hg38)		NC_000001.11	Chr1	54,698,811	54,698,833
nssv16903322	Remapped	Perfect	NC_000001.10:g.551 64484_55164506ins3 14	GRCh37.p13	First Pass	NC_000001.10	Chr1	55,164,484	55,164,506

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)
nssv16903322	0.036	226	6354

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