A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1071830



Internal ID15578330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104813138..104814249hg38UCSC Ensembl
Innerchr6:105261013..105262124hg19UCSC Ensembl
Innerchr6:105367706..105368817hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381112
hg191112
hg181112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv604417
Supporting Variants
Samples
Known GenesHACE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1071830
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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