A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049782



Internal ID21181831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214547168..214547219hg38UCSC Ensembl
chr2:215411892..215411943hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030462
SamplesNA12878
Known GenesVWC2L
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)nsv3049782
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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