A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055589



Internal ID18798120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46194634hg38UCSC Ensembl
Innerchr17:44208674..44272000hg19UCSC Ensembl
Innerchr17:41564451..41627777hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3863327
hg1963327
hg1863327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3210n100
Supporting Variantsnssv3549960
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)nsv1055589
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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