A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066721



Internal ID18809252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46351303hg38UCSC Ensembl
Innerchr17:44165803..44428669hg19UCSC Ensembl
Innerchr17:41521621..41784425hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38262867
hg19262867
hg18262805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n100
Supporting Variantsnssv3720499, nssv3720498, nssv3720492, nssv3720496, nssv3720493, nssv3548367, nssv3720494, nssv3548366, nssv3548364, nssv3720497, nssv3548368, nssv3548365, nssv3720495
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066721
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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