A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064234



Internal ID21195737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:3085758..3085758hg38UCSC Ensembl
chr10:3127950..3127950hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14035431
SamplesNA12878
Known GenesPFKP
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)nsv3064234
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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