A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2247



Internal ID15541543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:4727675..4744240hg38UCSC Ensembl
Outerchr2:4775265..4791830hg19UCSC Ensembl
Outerchr2:4753140..4769705hg18UCSC Ensembl
Outerchr2:4268634..4285199hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3816566
hg1916566
hg1816566
hg1716566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2580
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)nssv2247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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