A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003380



Internal ID69872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140448321..140448391hg38UCSC Ensembl
chr7:140148121..140148191hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396050
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003122


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