A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2964



Internal ID15547527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:149275940..149311252hg38UCSC Ensembl
Outerchr2:150132454..150167766hg19UCSC Ensembl
Outerchr2:149840700..149876012hg18UCSC Ensembl
Outerchr2:149957962..149993274hg17UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg385684
hg195684
hg185684
hg175684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1543
SamplesNA19240
Known Genes
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)nsv2964
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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