A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047882



Internal ID21179928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66414201..66414348hg38UCSC Ensembl
chr15:66706539..66706686hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021372
SamplesNA12878
Known GenesMAP2K1
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)nsv3047882
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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