A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055326



Internal ID18797857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46175916..46218456hg38UCSC Ensembl
Innerchr17:44253282..44295822hg19UCSC Ensembl
Innerchr17:41609059..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3842541
hg1942541
hg1842541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3235n100
Supporting Variantsnssv3557328
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)nsv1055326
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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