A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2024



Internal ID15541307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21507124..21551513hg38UCSC Ensembl
Outerchr13:22081263..22125652hg19UCSC Ensembl
Outerchr13:20979263..21023652hg18UCSC Ensembl
Outerchr13:20979263..21023652hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3844390
hg1944390
hg1844390
hg1744390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952
Supporting Variants
SamplesNA18555
Known GenesMICU2
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)nssv2024
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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