A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030071



Internal ID18772602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31392318..31498018hg38UCSC Ensembl
Innerchr6:31360095..31465795hg19UCSC Ensembl
Innerchr6:31468074..31573774hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38105701
hg19105701
hg18105701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5943n100
Supporting Variantsnssv3655865, nssv3655864
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)nsv1030071
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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