A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2911



Internal ID15547474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127058062..127091692hg38UCSC Ensembl
Outerchr2:127815638..127849268hg19UCSC Ensembl
Outerchr2:127532108..127565738hg18UCSC Ensembl
Outerchr2:127531868..127565498hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg387370
hg197370
hg187370
hg177370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1535
SamplesNA19240
Known GenesBIN1
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)nsv2911
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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