A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056295



Internal ID21188197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57062204..57062204hg38UCSC Ensembl
chr18:54729435..54729435hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38946
hg19946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14017439
SamplesNA12878
Known GenesLINC-ROR
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)nsv3056295
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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