A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064504



Internal ID21195991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88185709..88185709hg38UCSC Ensembl
chr12:88579486..88579486hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035218
SamplesNA12878
Known GenesTMTC3
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)nsv3064504
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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