A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024516



Internal ID18767048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:127863037..127977133hg38UCSC Ensembl
Innerchr6:128184182..128298278hg19UCSC Ensembl
Innerchr6:128225875..128339971hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38114097
hg19114097
hg18114097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654386
Samples
Known GenesPTPRK, THEMIS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024516
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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