A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14035841



Internal ID21158045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114583426..114583493hg38UCSC Ensembl
chr10:116343185..116343252hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3065470
Supporting Variants
SamplesCHM1
Known GenesABLIM1
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)nssv14035841
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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