A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4056



Internal ID15192097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123901010..123935252hg38UCSC Ensembl
Outerchr12:124385557..124419799hg19UCSC Ensembl
Outerchr12:122951510..122985752hg18UCSC Ensembl
Outerchr12:122910437..122944679hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384512
hg194512
hg184512
hg174512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv915
Supporting Variants
SamplesNA12878
Known GenesDNAH10
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)nssv4056
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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