A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10062



Internal ID15498339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31571300..31623381hg38UCSC Ensembl
Outerchr1:32036901..32088982hg19UCSC Ensembl
Outerchr1:31809488..31861569hg18UCSC Ensembl
Outerchr1:31705994..31758075hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3852082
hg1952082
hg1852082
hg1752082
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14086, nssv15780
SamplesNA19221, NA18552
Known GenesHCRTR1, TINAGL1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10062
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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