A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10202



Internal ID15498479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178651623..178664251hg38UCSC Ensembl
Outerchr2:179516350..179528978hg19UCSC Ensembl
Outerchr2:179224595..179237223hg18UCSC Ensembl
Outerchr2:179341856..179354484hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3812629
hg1912629
hg1812629
hg1712629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11684, nssv28514, nssv11653
SamplesNA18517, NA18537, NA18504
Known GenesMIR548N, TTN
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)nsv10202
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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