A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065176



Internal ID21196612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58003889..58004194hg38UCSC Ensembl
chr18:55671121..55671426hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv629n140
Supporting Variantsnssv14017100
SamplesCHM1
Known Genes
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)nsv3065176
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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