A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3044980



Internal ID21176745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62830653..62830653hg38UCSC Ensembl
chr20:61462005..61462005hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024150
SamplesNA12878
Known GenesCOL9A3
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)nsv3044980
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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