A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619



Internal ID15550446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3051538..3084952hg38UCSC Ensembl
Outerchr7:3091172..3124586hg19UCSC Ensembl
Outerchr7:3057698..3091112hg18UCSC Ensembl
Outerchr7:2864413..2897827hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg386024
hg196024
hg186024
hg176024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8337
SamplesNA12156
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)nsv5619
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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