A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047884



Internal ID21179930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67771162..67771218hg38UCSC Ensembl
chr15:68063500..68063556hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14032172
SamplesNA12878
Known GenesMAP2K5
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)nsv3047884
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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