A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600926



Internal ID16388335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7949573..7974634hg38UCSC Ensembl
Innerchr6:7949806..7974867hg19UCSC Ensembl
Innerchr6:7894805..7919866hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3825062
hg1925062
hg1825062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153623
Samples1780862304_A
Known GenesBLOC1S5-TXNDC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600926
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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