A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2295



Internal ID15540566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134204142..134215583hg38UCSC Ensembl
Outerchr2:134961713..134973154hg19UCSC Ensembl
Outerchr2:134678183..134689624hg18UCSC Ensembl
Outerchr2:134795445..134806886hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3811442
hg1911442
hg1811442
hg1711442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2938
Supporting Variants
SamplesNA18555
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2295
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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