A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14028975



Internal ID21157795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27981272..27988838hg38UCSC Ensembl
chr10:28270201..28277767hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg387567
hg197567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3058701
Supporting Variants
SamplesCHM1
Known GenesARMC4
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)nssv14028975
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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