A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv708



Internal ID15552053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51930890..51947818hg38UCSC Ensembl
Outerchr12:52324674..52341602hg19UCSC Ensembl
Outerchr12:50610941..50627869hg18UCSC Ensembl
Outerchr12:50610941..50627869hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3816929
hg1916929
hg1816929
hg1716929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6505
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)nsv708
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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