A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203



Internal ID8514771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231470395..231515247hg38UCSC Ensembl
Outerchr2:232335106..232379958hg19UCSC Ensembl
Outerchr2:232043350..232088202hg18UCSC Ensembl
Outerchr2:232160611..232205463hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3844853
hg1944853
hg1844853
hg1744853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7625
SamplesNA12156
Known GenesLINC00471
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)nsv3203
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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