A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208



Internal ID15547794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231987935..232012282hg38UCSC Ensembl
Outerchr2:232852645..232876992hg19UCSC Ensembl
Outerchr2:232560889..232585236hg18UCSC Ensembl
Outerchr2:232678150..232702497hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3824348
hg1924348
hg1824348
hg1724348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7628
SamplesNA12156
Known GenesDIS3L2
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)nsv3208
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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