A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021778



Internal ID18764312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102613..32158337hg38UCSC Ensembl
Innerchr5:32102719..32158443hg19UCSC Ensembl
Innerchr5:32138476..32194200hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3855725
hg1955725
hg1855725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5621n100
Supporting Variantsnssv3636809, nssv3636804, nssv3636803, nssv3636817, nssv3636811, nssv3636801, nssv3636812, nssv3636827, nssv3745879, nssv3636808, nssv3636822, nssv3636820, nssv3636798, nssv3636819, nssv3636825, nssv3636814, nssv3636802, nssv3636813, nssv3636805, nssv3745876, nssv3745881, nssv3636800, nssv3636799, nssv3636815, nssv3636807, nssv3636823, nssv3636810, nssv3745882, nssv3636821, nssv3745873, nssv3745877, nssv3636816, nssv3745878, nssv3636818, nssv3636828, nssv3636824, nssv3636806, nssv3745875, nssv3745880, nssv3745874, nssv3636826
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021778
Frequency
Sample Size29084
Observed Gain41
Observed Loss0
Observed Complex0
Frequencyn/a


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