A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704064



Internal ID127730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82331105..82348537hg38UCSC Ensembl
chr15:82623459..83017260hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3817433
hg19393802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146195
Supporting Variants
Samples
Known GenesADAMTS7P1, CSPG4P8, GOLGA6L10, GOLGA6L20, GOLGA6L9, LOC727751, LOC80154, RPS17, RPS17L, UBE2Q2P2, UBE2Q2P3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704064
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.328678


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