A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14035376



Internal ID21166176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63857200..63857325hg38UCSC Ensembl
chr8:64769757..64769882hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063828
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)nssv14035376
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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