A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057176



Internal ID18799707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46099606..46211213hg38UCSC Ensembl
Innerchr17:44176972..44288579hg19UCSC Ensembl
Innerchr17:41532785..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38111608
hg19111608
hg18111572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3548463
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057176
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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