A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022499



Internal ID18765033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31392318..31517397hg38UCSC Ensembl
Innerchr6:31360095..31485174hg19UCSC Ensembl
Innerchr6:31468074..31593153hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38125080
hg19125080
hg18125080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655870
Samples
Known GenesHCG26, HCP5, MICA, MICB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022499
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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