A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030178



Internal ID19119397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32481273..32559495hg38UCSC Ensembl
Innerchr6:32449050..32527272hg19UCSC Ensembl
Innerchr6:32557028..32635250hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3878223
hg1978223
hg1878223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5948n100
Supporting Variantsnssv3655970, nssv3655969, nssv3655974, nssv3655972, nssv3655975, nssv3655979, nssv3655980, nssv3655973, nssv3655976, nssv3655977, nssv3655978, nssv3655968, nssv3655971
Samples
Known GenesHLA-DRB5, HLA-DRB6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030178
Frequency
Sample Size11257
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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