A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051391



Internal ID21183443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55105989..55106182hg38UCSC Ensembl
chr5:54401817..54402010hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029622
SamplesNA12878
Known GenesGZMA
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)nsv3051391
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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