A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3136



Internal ID15547715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208093100..208114580hg38UCSC Ensembl
Outerchr2:208957824..208979304hg19UCSC Ensembl
Outerchr2:208666069..208687549hg18UCSC Ensembl
Outerchr2:208783330..208804810hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385877
hg195877
hg185877
hg175877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5846, nssv7606, nssv4498
SamplesNA12156, NA12878, NA19129
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)nsv3136
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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