A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27617



Internal ID15830654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1964963..1965526hg38UCSC Ensembl
Outerchr2:1962190..1966426hg38UCSC Ensembl
Innerchr2:1968735..1969298hg19UCSC Ensembl
Outerchr2:1965962..1970198hg19UCSC Ensembl
Innerchr2:1947742..1948305hg18UCSC Ensembl
Outerchr2:1944969..1949205hg18UCSC Ensembl
Innerchr2:1939032..1939595hg17UCSC Ensembl
Outerchr2:1936259..1940495hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg384237
hg194237
hg184237
hg174237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9280
Supporting Variants
SamplesNA12155
Known GenesMYT1L
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)nssv27617
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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