A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979



Internal ID15206314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29548117..29593684hg38UCSC Ensembl
Outerchr13:30122254..30167821hg19UCSC Ensembl
Outerchr13:29020254..29065821hg18UCSC Ensembl
Outerchr13:29020254..29065821hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3845568
hg1945568
hg1845568
hg1745568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6554
SamplesNA12156
Known GenesSLC7A1
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)nsv979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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