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dbVar

Database of genomic structural variation

nsv5397293

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:70

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: 98 SVs from 29 studies. See in: genome view

Submitted genomic34,754,513-34,754,582

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5397293	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	34,754,513	34,754,582
nsv5397293	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	34,754,618	34,754,687

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16964222	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16964222	Submitted genomic		NC_000005.10:g.347 54513_34754582ins2 79	GRCh38 (hg38)		NC_000005.10	Chr5	34,754,513	34,754,582
nssv16964222	Remapped	Perfect	NC_000005.9:g.3475 4618_34754687ins27 9	GRCh37.p13	First Pass	NC_000005.9	Chr5	34,754,618	34,754,687

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)
nssv16964222	0.047	287	6138

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