A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980



Internal ID15553001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29626060..29662778hg38UCSC Ensembl
Outerchr13:30200197..30236915hg19UCSC Ensembl
Outerchr13:29098197..29134915hg18UCSC Ensembl
Outerchr13:29098197..29134915hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3836719
hg1936719
hg1836719
hg1736719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2026, nssv9098, nssv4064
SamplesNA12156, NA12878, NA18555
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)nsv980
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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