A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14035000



Internal ID21165938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142970292..142970292hg38UCSC Ensembl
chr8:144051709..144051709hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3050857
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)nssv14035000
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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