A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1995



Internal ID15194592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46631625..46651342hg38UCSC Ensembl
Outerchr12:47025408..47045125hg19UCSC Ensembl
Outerchr12:45311675..45331392hg18UCSC Ensembl
Outerchr12:45311675..45331392hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3819718
hg1919718
hg1819718
hg1719718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv692
Supporting Variants
SamplesNA18555
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)nssv1995
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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