A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597785



Internal ID16385194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32312450..32312981hg38UCSC Ensembl
Innerchr5:32312556..32313087hg19UCSC Ensembl
Innerchr5:32348313..32348844hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38532
hg19532
hg18532
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028913, nssv1028910, nssv1028911, nssv1028914, nssv1028915, nssv1028916, nssv1028912
Samples
Known GenesMTMR12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597785
Frequency
Sample Size17421
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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