A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2670



Internal ID15200547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32992839..33006426hg38UCSC Ensembl
Outerchr2:33217906..33231493hg19UCSC Ensembl
Outerchr2:33071410..33084997hg18UCSC Ensembl
Outerchr2:33129557..33143144hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3813588
hg1913588
hg1813588
hg1713588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2259
SamplesNA18555
Known GenesLTBP1
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)nsv2670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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