A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608



Internal ID15550953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11330149..11414710hg38UCSC Ensembl
Outerchr12:11483083..11567644hg19UCSC Ensembl
Outerchr12:11374350..11458911hg18UCSC Ensembl
Outerchr12:11374350..11458911hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3884562
hg1984562
hg1884562
hg1784562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1061, nssv9279, nssv6492, nssv4011
SamplesNA12156, NA12878, NA18517, NA19240
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)nsv608
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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