A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2894



Internal ID15547457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:120294147..120339412hg38UCSC Ensembl
Outerchr2:121051723..121096988hg19UCSC Ensembl
Outerchr2:120768193..120813458hg18UCSC Ensembl
Outerchr2:120767953..120813218hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3845266
hg1945266
hg1845266
hg1745266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5813
SamplesNA19129
Known GenesRALB
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)nsv2894
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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