A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657727



Internal ID15047693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32101294..32169441hg38UCSC Ensembl
Innerchr5:32101400..32169547hg19UCSC Ensembl
Innerchr5:32137157..32205304hg18UCSC Ensembl
Innerchr5:32137157..32205304hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3868148
hg1968148
hg1868148
hg1768148
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)nssv657727
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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