A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053924



Internal ID21185908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62278316..62278373hg38UCSC Ensembl
chr1:62743988..62744045hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030857
SamplesNA12878
Known GenesKANK4
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)nsv3053924
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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