A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3144



Internal ID15547724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209835284..209869318hg38UCSC Ensembl
Outerchr2:210700008..210734042hg19UCSC Ensembl
Outerchr2:210408253..210442287hg18UCSC Ensembl
Outerchr2:210525514..210559548hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg385399
hg195399
hg185399
hg175399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7610
SamplesNA12156
Known GenesUNC80
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)nsv3144
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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