A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060613



Internal ID18803144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46674922hg38UCSC Ensembl
Innerchr17:44219555..44752288hg19UCSC Ensembl
Innerchr17:41575332..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38532734
hg19532734
hg18532136
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3556733, nssv3556760, nssv3556750, nssv3724114, nssv3724110, nssv3556761, nssv3724101, nssv3556738, nssv3556734, nssv3556739, nssv3556744, nssv3724113, nssv3724104, nssv3724109, nssv3724099, nssv3556753, nssv3724107, nssv3724102, nssv3724119, nssv3724106, nssv3556732, nssv3556746, nssv3724117, nssv3556754, nssv3556752, nssv3556763, nssv3556740, nssv3556731, nssv3556759, nssv3724112, nssv3556748, nssv3556745, nssv3724115, nssv3724111, nssv3556747, nssv3724120, nssv3556758, nssv3556741, nssv3724118, nssv3724103, nssv3556764, nssv3556751, nssv3556756, nssv3556743, nssv3556762, nssv3556749, nssv3556737, nssv3556742, nssv3556736, nssv3556735, nssv3724116, nssv3556755, nssv3724108, nssv3724100, nssv3556757, nssv3724105
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060613
Frequency
Sample Size29084
Observed Gain25
Observed Loss31
Observed Complex0
Frequencyn/a


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