A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3492



Internal ID15538220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170398859..170405858hg38UCSC Ensembl
Outerchr6:170707947..170714946hg19UCSC Ensembl
Outerchr6:170549872..170556871hg18UCSC Ensembl
Outerchr6:170625579..170632578hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3818206
hg1918206
hg1818206
hg1718206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5605
Supporting Variants
SamplesNA12878
Known GenesFAM120B
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)nssv3492
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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