A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4425



Internal ID15539152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73782497..73807607hg38UCSC Ensembl
Outerchr2:74009624..74034734hg19UCSC Ensembl
Outerchr2:73863132..73888242hg18UCSC Ensembl
Outerchr2:73921279..73946389hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg386080
hg196080
hg186080
hg176080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2781
Supporting Variants
SamplesNA12878
Known GenesC2orf78
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)nssv4425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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