A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524900



Internal ID301085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41504823..41537122hg38UCSC Ensembl
chr17:39661075..39693374hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3832300
hg1932300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713189
Samples
Known GenesKRT13, KRT15, KRT19, MIR6510
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524900
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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