A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1080



Internal ID15544777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45503122..45540626hg38UCSC Ensembl
Outerchr12:45896905..45934409hg19UCSC Ensembl
Outerchr12:44183172..44220676hg18UCSC Ensembl
Outerchr12:44183172..44220676hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3837505
hg1937505
hg1837505
hg1737505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv691
Supporting Variants
SamplesNA19240
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)nssv1080
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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