A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3050379



Internal ID21182429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8220017..8220088hg38UCSC Ensembl
chrUn_gl000220:119498..119554hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3872
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026802
SamplesNA12878
Known Genes
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)nsv3050379
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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