A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514040



Internal ID15812592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210431713..210438609hg38UCSC Ensembl
Innerchr1:210605057..210611953hg19UCSC Ensembl
Innerchr1:208671680..208678576hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386897
hg196897
hg186897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2857798, nssv2857804, nssv2857802, nssv2857807, nssv2857799, nssv2857806, nssv2857803, nssv2857800, nssv2857801, nssv2857805, nssv2857797
SamplesNA21524, NA19204, NA19145, NA19123, NA19161, NA19205, NA19097, NA19160, NA19095, NA19143, NA19121
Known GenesHHAT
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514040
Frequency
Sample Size2366
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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