A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685



Internal ID15545295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135509071..135542627hg38UCSC Ensembl
Outerchr7:135193819..135227375hg19UCSC Ensembl
Outerchr7:134844359..134877915hg18UCSC Ensembl
Outerchr7:134651074..134684630hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg387438
hg197438
hg187438
hg177438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5961
Supporting Variants
SamplesNA19240
Known GenesCNOT4
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)nssv685
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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