A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730



Internal ID15550569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47647160..47662584hg38UCSC Ensembl
Outerchr7:47686758..47702182hg19UCSC Ensembl
Outerchr7:47653283..47668707hg18UCSC Ensembl
Outerchr7:47459998..47475422hg17UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg387768
hg197768
hg187768
hg177768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626
SamplesNA19240
Known GenesC7orf65
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)nsv5730
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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