A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190



Internal ID15201089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226766344..226811683hg38UCSC Ensembl
Outerchr2:227631060..227676399hg19UCSC Ensembl
Outerchr2:227339304..227384643hg18UCSC Ensembl
Outerchr2:227456565..227501904hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3845340
hg1945340
hg1845340
hg1745340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6908
SamplesNA12156
Known GenesIRS1
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)nsv3190
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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