A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14036901



Internal ID21167232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41361598..41361890hg38UCSC Ensembl
chr19:41867503..41867795hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063031
Supporting Variants
SamplesNA12878
Known GenesB9D2
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)nssv14036901
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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