A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050550



Internal ID21182600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166755898..166761934hg38UCSC Ensembl
chr4:167677049..167683085hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg386037
hg196037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1078n140
Supporting Variantsnssv14022738
SamplesNA12878
Known GenesSPOCK3
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)nsv3050550
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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