A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064310



Internal ID21195801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:98265363..98265698hg38UCSC Ensembl
chr10:100025120..100025455hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035317
SamplesNA12878
Known GenesLOXL4
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)nsv3064310
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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