A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28151



Internal ID15838004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73787231..73806230hg38UCSC Ensembl
Outerchr2:73786774..73806367hg38UCSC Ensembl
Innerchr2:74014358..74033357hg19UCSC Ensembl
Outerchr2:74013901..74033494hg19UCSC Ensembl
Innerchr2:73867866..73886865hg18UCSC Ensembl
Outerchr2:73867409..73887002hg18UCSC Ensembl
Innerchr2:73926013..73945012hg17UCSC Ensembl
Outerchr2:73925556..73945149hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3819594
hg1919594
hg1819594
hg1719594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10024
Supporting Variants
SamplesNA18860
Known GenesC2orf78
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)nssv28151
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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