A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018123



Internal ID21169778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61122801..61123324hg38UCSC Ensembl
chr8:62035360..62035883hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3055374
Supporting Variants
SamplesNA12878
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)nssv14018123
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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