A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042422



Internal ID18784953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34434959..34538731hg38UCSC Ensembl
Innerchr15:34727160..34830932hg19UCSC Ensembl
Innerchr15:32514452..32618224hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38103773
hg19103773
hg18103773
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2562n100
Supporting Variantsnssv3550804, nssv3550798, nssv3550791, nssv3550792, nssv3550786, nssv3550771, nssv3550795, nssv3550790, nssv3550768, nssv3721970, nssv3721969, nssv3550772, nssv3550781, nssv3550794, nssv3550784, nssv3550783, nssv3550782, nssv3721967, nssv3550774, nssv3550806, nssv3550789, nssv3550779, nssv3550767, nssv3550797, nssv3550770, nssv3550793, nssv3550801, nssv3721971, nssv3550802, nssv3550777, nssv3550800, nssv3550773, nssv3550799, nssv3550808, nssv3550769, nssv3550785, nssv3550775, nssv3550788, nssv3550778, nssv3550805, nssv3550803, nssv3550796, nssv3721968, nssv3550807, nssv3550787, nssv3550776, nssv3550780, nssv3721966
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042422
Frequency
Sample Size29084
Observed Gain3
Observed Loss45
Observed Complex0
Frequencyn/a


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