A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990



Internal ID15550855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:145808291..145843137hg38UCSC Ensembl
Outerchr7:145505384..145540230hg19UCSC Ensembl
Outerchr7:145136317..145171163hg18UCSC Ensembl
Outerchr7:144943032..144977878hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384898
hg194898
hg184898
hg174898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3591
SamplesNA12878
Known Genes
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)nsv5990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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