A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918



Internal ID15550775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:117820544..117855331hg38UCSC Ensembl
Outerchr7:117460598..117495385hg19UCSC Ensembl
Outerchr7:117247834..117282621hg18UCSC Ensembl
Outerchr7:117054549..117089336hg17UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg384960
hg194960
hg184960
hg174960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573
SamplesNA12878
Known GenesCTTNBP2
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)nsv5918
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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