A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6224



Internal ID15551112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:62125632..62141705hg38UCSC Ensembl
Outerchr8:63038191..63054264hg19UCSC Ensembl
Outerchr8:63200745..63216818hg18UCSC Ensembl
Outerchr8:63200745..63216818hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg386040
hg196040
hg186040
hg176040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8502
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)nsv6224
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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