A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv659254



Internal ID15049220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32145851hg38UCSC Ensembl
Innerchr5:32107084..32145957hg19UCSC Ensembl
Innerchr5:32142841..32181714hg18UCSC Ensembl
Innerchr5:32142841..32181714hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3838874
hg1938874
hg1838874
hg1738874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517387
Supporting Variants
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv659254
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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