A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7565



Internal ID15189613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157888610..157922737hg38UCSC Ensembl
Outerchr2:158745122..158779249hg19UCSC Ensembl
Outerchr2:158453368..158487495hg18UCSC Ensembl
Outerchr2:158570630..158604757hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg385308
hg195308
hg185308
hg175308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2990
Supporting Variants
SamplesNA12156
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)nssv7565
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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