A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602022



Internal ID16042745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31986316..31990466hg38UCSC Ensembl
Innerchr6:31954093..31958243hg19UCSC Ensembl
Innerchr6:32062072..32066222hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg384151
hg194151
hg184151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10473n54
Supporting Variantsnssv1053690, nssv1053687, nssv1053697, nssv1053694, nssv1053691, nssv1053700, nssv1053689, nssv1053688, nssv1053693, nssv1053699, nssv1053703, nssv1053696, nssv1053692, nssv1053702, nssv1053698, nssv1053701, nssv1053686, nssv1053695
Samples
Known GenesC4A, C4B, C4B_2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602022
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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