A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28676



Internal ID15495007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97724191..97727717hg38UCSC Ensembl
Outerchr2:97723809..97728689hg38UCSC Ensembl
Innerchr2:98340654..98344180hg19UCSC Ensembl
Outerchr2:98340272..98345152hg19UCSC Ensembl
Innerchr2:97707086..97710612hg18UCSC Ensembl
Outerchr2:97706704..97711584hg18UCSC Ensembl
Innerchr2:97799172..97802698hg17UCSC Ensembl
Outerchr2:97798790..97803670hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384881
hg194881
hg184881
hg174881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10104
Supporting Variants
SamplesNA19132
Known GenesZAP70
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)nssv28676
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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