A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9122



Internal ID15188056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49345442..49352589hg38UCSC Ensembl
Outerchr13:49919578..49926725hg19UCSC Ensembl
Outerchr13:48817579..48824726hg18UCSC Ensembl
Outerchr13:48817579..48824726hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg387148
hg197148
hg187148
hg177148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1037
Supporting Variants
SamplesNA12156
Known GenesCAB39L
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)nssv9122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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