A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063014



Internal ID19152233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46284631hg38UCSC Ensembl
Innerchr17:44165803..44361997hg19UCSC Ensembl
Innerchr17:41521621..41717774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38196195
hg19196195
hg18196154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3181n100
Supporting Variantsnssv3547218, nssv3547217, nssv3547216, nssv3547210, nssv3547214, nssv3547215, nssv3547219, nssv3547213, nssv3547220, nssv3720358, nssv3547221, nssv3547212, nssv3720357, nssv3547207, nssv3547211, nssv3547209, nssv3547208
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063014
Frequency
Sample Size11257
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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