A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129



Internal ID15545692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:93604472..93630764hg38UCSC Ensembl
Outerchr13:94256725..94283017hg19UCSC Ensembl
Outerchr13:93054726..93081018hg18UCSC Ensembl
Outerchr13:93054726..93081018hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3826293
hg1926293
hg1826293
hg1726293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9148
SamplesNA12156
Known GenesGPC6
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)nsv1129
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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