A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025653



Internal ID21160154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112114..220112434hg38UCSC Ensembl
chr1:220285456..220285776hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3060562
Supporting Variants
SamplesCHM1
Known GenesIARS2, RNU5F-1
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)nssv14025653
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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