A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022692



Internal ID19111910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104701838..104729164hg38UCSC Ensembl
Innerchr6:105149713..105177039hg19UCSC Ensembl
Innerchr6:105256406..105283732hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3827327
hg1927327
hg1827327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654273
Samples
Known GenesHACE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022692
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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