A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601



Internal ID15550876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8793451..8801763hg38UCSC Ensembl
Outerchr12:8946047..8954359hg19UCSC Ensembl
Outerchr12:8837314..8845626hg18UCSC Ensembl
Outerchr12:8837314..8845626hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3813191
hg1913191
hg1813191
hg1713191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5398
SamplesNA19129
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)nsv601
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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