A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622



Internal ID15550450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3964781..3996104hg38UCSC Ensembl
Outerchr7:4004413..4035736hg19UCSC Ensembl
Outerchr7:3970939..4002262hg18UCSC Ensembl
Outerchr7:3777654..3808977hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg385350
hg195350
hg185350
hg175350
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8338
SamplesNA12156
Known GenesSDK1
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)nsv5622
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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