A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057523



Internal ID19146742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46218456hg38UCSC Ensembl
Innerchr17:44219555..44295822hg19UCSC Ensembl
Innerchr17:41575332..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3876268
hg1976268
hg1876268
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3213n100
Supporting Variantsnssv3724092, nssv3556710, nssv3556708, nssv3556709, nssv3556706, nssv3556707, nssv3556705, nssv3724091
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)nsv1057523
Frequency
Sample Size11257
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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