A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11652



Internal ID15832800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241800073..241824281hg38UCSC Ensembl
Outerchr2:241799490..241826324hg38UCSC Ensembl
Innerchr2:242739488..242766460hg19UCSC Ensembl
Outerchr2:242738905..242768502hg19UCSC Ensembl
Innerchr2:242388161..242415133hg18UCSC Ensembl
Outerchr2:242387578..242417175hg18UCSC Ensembl
Innerchr2:242459478..242486450hg17UCSC Ensembl
Outerchr2:242458895..242488492hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3826835
hg1929598
hg1829598
hg1729598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10232
Supporting Variants
SamplesNA18502
Known GenesGAL3ST2, NEU4
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)nssv11652
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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