A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062820



Internal ID18805351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46120237..46202822hg38UCSC Ensembl
Innerchr17:44197603..44280188hg19UCSC Ensembl
Innerchr17:41553381..41635965hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3882586
hg1982586
hg1882585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3199n100
Supporting Variantsnssv3720643
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)nsv1062820
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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