A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049973



Internal ID21182022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180113291..180113499hg38UCSC Ensembl
chr5:179540291..179540499hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031901
SamplesNA12878
Known GenesRASGEF1C
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)nsv3049973
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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