A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699747



Internal ID123413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30386874..30394937hg38UCSC Ensembl
chr15:30679077..30687140hg19UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg388064
hg198064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145763
Supporting Variants
Samples
Known GenesCHRFAM7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010134


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