A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514552



Internal ID15812913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34228814..34233154hg38UCSC Ensembl
Innerchr10:34517742..34522082hg19UCSC Ensembl
Innerchr10:34557748..34562088hg18UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg384341
hg194341
hg184341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2771913, nssv2769876, nssv2778350, nssv2774954, nssv2776326, nssv2768660
SamplesNA19222, NA19200, NA18910, NA19221, NA19093, NA19153
Known GenesPARD3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514552
Frequency
Sample Size2366
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer