A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049038



Internal ID21181086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51795563..51795633hg38UCSC Ensembl
chr15:52087760..52087830hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027445
SamplesNA12878
Known GenesTMOD2
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)nsv3049038
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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