A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061188



Internal ID18803719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46172472hg38UCSC Ensembl
Innerchr17:44208144..44249838hg19UCSC Ensembl
Innerchr17:41563921..41605615hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3841695
hg1941695
hg1841695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3212n100
Supporting Variantsnssv3549882, nssv3549883
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061188
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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