A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5795



Internal ID15550640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76083503..76114827hg38UCSC Ensembl
Outerchr7:75712821..75744145hg19UCSC Ensembl
Outerchr7:75550757..75582081hg18UCSC Ensembl
Outerchr7:75357472..75388796hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg388184
hg198184
hg188184
hg178184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10559
SamplesNA18956
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)nsv5795
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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