A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047518



Internal ID21179564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42181818..42182070hg38UCSC Ensembl
chr13:42755954..42756206hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv377n140
Supporting Variantsnssv14026425
SamplesNA12878
Known GenesDGKH
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)nsv3047518
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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