A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597778



Internal ID16385187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32167114hg38UCSC Ensembl
Innerchr5:32107084..32167220hg19UCSC Ensembl
Innerchr5:32142841..32202977hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3860137
hg1960137
hg1860137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9715n54
Supporting Variantsnssv1028878, nssv1028882, nssv1028883, nssv1028888, nssv1028898, nssv1028895, nssv1028897, nssv1028885, nssv1028892, nssv1028877, nssv1028876, nssv1028890, nssv1028894, nssv1028887, nssv1028896, nssv1028881, nssv1028879, nssv1028884, nssv1028886, nssv1028902, nssv1028899, nssv1028880, nssv1028901, nssv1028900, nssv1028891, nssv1028893, nssv1028889
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597778
Frequency
Sample Size17421
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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