A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927



Internal ID15550785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:120233018..120265420hg38UCSC Ensembl
Outerchr7:119873072..119905474hg19UCSC Ensembl
Outerchr7:119660308..119692710hg18UCSC Ensembl
Outerchr7:119467023..119499425hg17UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg387106
hg197106
hg187106
hg177106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10579
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)nsv5927
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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