A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053074



Internal ID21185085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33163606..33163606hg38UCSC Ensembl
chr13:33737743..33737743hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026183
SamplesNA12878
Known GenesSTARD13
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)nsv3053074
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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