A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029927



Internal ID18772458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73590773..73714632hg38UCSC Ensembl
Innerchr6:74300496..74424355hg19UCSC Ensembl
Innerchr6:74357217..74481076hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38123860
hg19123860
hg18123860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6015n100
Supporting Variantsnssv3658813
Samples
Known GenesCD109, SLC17A5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029927
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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