A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557688



Internal ID16345097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19425173hg38UCSC Ensembl
Innerchr12:19469078..19578107hg19UCSC Ensembl
Innerchr12:19360345..19469374hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38109030
hg19109030
hg18109030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2397n54
Supporting Variantsnssv1176261, nssv789493, nssv789496, nssv1176263, nssv789498, nssv789489, nssv789494, nssv789490, nssv789484, nssv789486, nssv1176257, nssv789482, nssv1176260, nssv1176256, nssv789491, nssv789497, nssv1176262, nssv789485, nssv789492, nssv1176258, nssv789487, nssv1176259, nssv789483, nssv789481, nssv789488, nssv789495
SamplesHGDP01385, NINDS_18, 1798860210_A, 1780854219_A, 1782681091_A, HGDP01279, 1780854202_A, NINDS_181
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557688
Frequency
Sample Size17421
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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