A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5415



Internal ID15543798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33211655..33252927hg38UCSC Ensembl
Outerchr12:33364590..33405862hg19UCSC Ensembl
Outerchr12:33255857..33297129hg18UCSC Ensembl
Outerchr12:33255857..33297129hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3841273
hg1941273
hg1841273
hg1741273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv669
Supporting Variants
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)nssv5415
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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