A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv736



Internal ID15552361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:61284303..61315818hg38UCSC Ensembl
Outerchr12:61678084..61709599hg19UCSC Ensembl
Outerchr12:59964351..59995866hg18UCSC Ensembl
Outerchr12:59964351..59995866hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg387980
hg197980
hg187980
hg177980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10870
SamplesNA18956
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)nsv736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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