A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060791



Internal ID19150010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46199182hg38UCSC Ensembl
Innerchr17:44219555..44276548hg19UCSC Ensembl
Innerchr17:41575332..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3856994
hg1956994
hg1856994
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3221n100
Supporting Variantsnssv3724079, nssv3724080, nssv3556692, nssv3556690, nssv3556689, nssv3724078, nssv3556694, nssv3724077, nssv3724076, nssv3724075, nssv3556695, nssv3556691, nssv3556693
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)nsv1060791
Frequency
Sample Size11257
Observed Gain3
Observed Loss10
Observed Complex0
Frequencyn/a


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