A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063991



Internal ID21195521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109108011..109108011hg38UCSC Ensembl
chr1:109650633..109650633hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14037779
SamplesNA12878
Known GenesC1orf194
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)nsv3063991
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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