A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3573



Internal ID15538301
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 StatusS
Merged Variantsnsv5918
Supporting Variants
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)nssv3573
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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