A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1529



Internal ID15545550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109433514..109468299hg38UCSC Ensembl
Outerchr2:110049970..110084755hg19UCSC Ensembl
Outerchr2:109416402..109451187hg18UCSC Ensembl
Outerchr2:109508488..109543273hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg386212
hg196212
hg186212
hg176212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2873
Supporting Variants
SamplesNA19240
Known GenesSH3RF3
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)nssv1529
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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