A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048231



Internal ID21180278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43468161..43468161hg38UCSC Ensembl
chr21:44888041..44888041hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14037943
SamplesNA12878
Known GenesLINC00313
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)nsv3048231
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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