A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2953



Internal ID15200830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143054294..143085719hg38UCSC Ensembl
Outerchr2:143811863..143843288hg19UCSC Ensembl
Outerchr2:143528333..143559758hg18UCSC Ensembl
Outerchr2:143645595..143677020hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg388312
hg198312
hg188312
hg178312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4464
SamplesNA12878
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)nsv2953
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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