A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593256



Internal ID16033979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086705..1087519hg38UCSC Ensembl
Innerchr4:1080493..1081307hg19UCSC Ensembl
Innerchr4:1070493..1071307hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38815
hg19815
hg18815
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8883n54
Supporting Variantsnssv987618, nssv987598, nssv987608, nssv987600, nssv987593, nssv987610, nssv987603, nssv987602, nssv987595, nssv987601, nssv987622, nssv987612, nssv987613, nssv987615, nssv987607, nssv987621, nssv987611, nssv987614, nssv987596, nssv987619, nssv987604, nssv987620, nssv987605, nssv987594, nssv987609, nssv987617, nssv987597, nssv987606, nssv987599, nssv987616
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593256
Frequency
Sample Size17421
Observed Gain29
Observed Loss1
Observed Complex0
Frequencyn/a


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