A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003591



Internal ID70018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130884516..130884567hg38UCSC Ensembl
chr7:130569275..130569326hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403976
Supporting Variants
Samples
Known GenesLOC646329
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003591
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003122


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