A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060149



Internal ID18802680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46186703hg38UCSC Ensembl
Innerchr17:44224533..44264069hg19UCSC Ensembl
Innerchr17:41580310..41619846hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3839537
hg1939537
hg1839537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3225n100
Supporting Variantsnssv3556827, nssv3724175, nssv3556828, nssv3556825, nssv3556824, nssv3556826
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060149
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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