A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060938



Internal ID21192603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196949026..196949026hg38UCSC Ensembl
chr3:196675897..196675897hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029618
SamplesCHM1
Known GenesPIGZ
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)nsv3060938
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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