A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600916



Internal ID16388325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7580725..7666433hg38UCSC Ensembl
Innerchr6:7580958..7666666hg19UCSC Ensembl
Innerchr6:7525957..7611665hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3885709
hg1985709
hg1885709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153621
Samples1780854485_A
Known GenesDSP, SNRNP48
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600916
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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