A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14021868



Internal ID21158564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:75231452..75232781hg38UCSC Ensembl
chr10:76991210..76992539hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058898
Supporting Variants
SamplesCHM1
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)nssv14021868
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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