A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664903



Internal ID15054869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32178405hg38UCSC Ensembl
Innerchr5:32107084..32178511hg19UCSC Ensembl
Innerchr5:32142841..32214268hg18UCSC Ensembl
Innerchr5:32142841..32214268hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3871428
hg1971428
hg1871428
hg1771428
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)nssv664903
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer