A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055432



Internal ID19144651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46211213hg38UCSC Ensembl
Innerchr17:44214888..44288579hg19UCSC Ensembl
Innerchr17:41570665..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3873692
hg1973692
hg1873692
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3213n100
Supporting Variantsnssv3723927, nssv3723923, nssv3723925, nssv3723930, nssv3723924, nssv3723926, nssv3556417, nssv3723929, nssv3723928, nssv3556418, nssv3723922
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)nsv1055432
Frequency
Sample Size11257
Observed Gain2
Observed Loss9
Observed Complex0
Frequencyn/a


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