A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1061



Internal ID15544946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11342385..11414710hg38UCSC Ensembl
Outerchr12:11495319..11567644hg19UCSC Ensembl
Outerchr12:11386586..11458911hg18UCSC Ensembl
Outerchr12:11386586..11458911hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3872326
hg1972326
hg1872326
hg1772326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv608
Supporting Variants
SamplesNA19240
Known GenesPRB1, PRB2
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)nssv1061
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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