A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031063



Internal ID21163309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2183943..2183943hg38UCSC Ensembl
chr19:2183942..2183942hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056349
Supporting Variants
SamplesNA12878
Known GenesDOT1L
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)nssv14031063
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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