A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149258



Internal ID19201642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29148456..29148796hg38UCSC Ensembl
Outerchr13:29722593..29722933hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002768
SamplesKWB1
Known GenesMTUS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149258
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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