A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604704



Internal ID16392113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134268193..134270682hg38UCSC Ensembl
Innerchr6:134589331..134591820hg19UCSC Ensembl
Innerchr6:134631024..134633513hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382490
hg192490
hg182490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1073454, nssv1073453
Samples
Known GenesSGK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604704
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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