A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057334



Internal ID21189184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44239971..44241695hg38UCSC Ensembl
chr2:44467110..44468834hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381725
hg191725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031147
SamplesCHM1
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)nsv3057334
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer