A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049526



Internal ID21181575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112210124..112210197hg38UCSC Ensembl
chr13:112864438..112864511hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14037378
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3049526
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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