A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980



Internal ID15550844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142458117..142491860hg38UCSC Ensembl
Outerchr7:142140087..142173844hg19UCSC Ensembl
Outerchr7:141826583..141860333hg18UCSC Ensembl
Outerchr7:141633298..141667048hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg385683
hg195683
hg185683
hg175683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8438
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)nsv5980
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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