A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063247



Internal ID21194777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6870727..6871517hg38UCSC Ensembl
chr21:15108099..15108887hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38791
hg19789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036744
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)nsv3063247
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