A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3055763



Internal ID21187687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185222038..185222117hg38UCSC Ensembl
chr4:186143192..186143271hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023751
SamplesCHM1
Known GenesSNX25
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)nsv3055763
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