A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065434



Internal ID21196869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16166981..16167037hg38UCSC Ensembl
chr5:16167090..16167146hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14038166
SamplesCHM1
Known GenesMARCH11
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)nsv3065434
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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