A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2929



Internal ID15200806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132390189..132419287hg38UCSC Ensembl
Outerchr2:133147762..133176860hg19UCSC Ensembl
Outerchr2:132864232..132893330hg18UCSC Ensembl
Outerchr2:132981494..133010592hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg385874
hg195874
hg185874
hg175874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1538
SamplesNA19240
Known GenesGPR39
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)nsv2929
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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