A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049931



Internal ID21181980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:106901159..106901935hg38UCSC Ensembl
chr5:106236860..106237636hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020117
SamplesNA12878
Known GenesLOC102467213
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)nsv3049931
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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