A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030917



Internal ID18773449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31392318..31492443hg38UCSC Ensembl
Innerchr6:31360095..31460220hg19UCSC Ensembl
Innerchr6:31468074..31568199hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38100126
hg19100126
hg18100126
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5943n100
Supporting Variantsnssv3655851, nssv3655854, nssv3655852, nssv3655853
Samples
Known GenesHCG26, HCP5, MICA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030917
Frequency
Sample Size29084
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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