A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1992



Internal ID15541275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:38790557..38822020hg38UCSC Ensembl
Outerchr12:39184359..39215822hg19UCSC Ensembl
Outerchr12:37470626..37502089hg18UCSC Ensembl
Outerchr12:37470626..37502089hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3831464
hg1931464
hg1831464
hg1731464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv676
Supporting Variants
SamplesNA18555
Known GenesCPNE8
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)nssv1992
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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