A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604415



Internal ID16045138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104813138..104814114hg38UCSC Ensembl
Innerchr6:105261013..105261989hg19UCSC Ensembl
Innerchr6:105367706..105368682hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10891n54
Supporting Variantsnssv1071823, nssv1071822, nssv1071827, nssv1071825, nssv1071824, nssv1071826, nssv1071819, nssv1071820, nssv1071821
Samples
Known GenesHACE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604415
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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