A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699929



Internal ID123595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:24374747..24747072hg38UCSC Ensembl
chr15:24619894..24992219hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38372326
hg19372326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507660
Supporting Variants
Samples
Known GenesNPAP1, PWRN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699929
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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