A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018213



Internal ID21169834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235043446..235043550hg38UCSC Ensembl
chr2:235952090..235952194hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3053275
Supporting Variants
SamplesNA12878
Known GenesSH3BP4
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)nssv14018213
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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