A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062541



Internal ID19151760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135050..46286792hg38UCSC Ensembl
Innerchr17:44212416..44364158hg19UCSC Ensembl
Innerchr17:41568193..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38151743
hg19151743
hg18151743
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3550052, nssv3550053, nssv3550050, nssv3550049, nssv3550051, nssv3718455
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)nsv1062541
Frequency
Sample Size11257
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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