A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14032828



Internal ID21164488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11538610..11538662hg38UCSC Ensembl
chr2:11678736..11678788hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3049727
Supporting Variants
SamplesNA12878
Known GenesGREB1
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)nssv14032828
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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