A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4179



Internal ID15548862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194703106..194735393hg38UCSC Ensembl
Outerchr3:194423835..194456122hg19UCSC Ensembl
Outerchr3:195905124..195937411hg18UCSC Ensembl
Outerchr3:195905132..195937419hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg386995
hg196995
hg186995
hg176995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4709
SamplesNA19129
Known GenesLOC100507391
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)nsv4179
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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