A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058973



Internal ID18801504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46113306..46192180hg38UCSC Ensembl
Innerchr17:44190672..44269546hg19UCSC Ensembl
Innerchr17:41546454..41625323hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3878875
hg1978875
hg1878870
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3203n100
Supporting Variantsnssv3548639, nssv3548638, nssv3548636, nssv3548641, nssv3548640, nssv3548637
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)nsv1058973
Frequency
Sample Size29084
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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