A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241



Internal ID15201145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241158269..241190667hg38UCSC Ensembl
Outerchr2:242097684..242130082hg19UCSC Ensembl
Outerchr2:241746357..241778755hg18UCSC Ensembl
Outerchr2:241817674..241850072hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg387040
hg197040
hg187040
hg177040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6917
SamplesNA12156
Known GenesANO7, PPP1R7
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)nsv3241
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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