A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054072



Internal ID21186052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606188..57606188hg38UCSC Ensembl
chr1:58071860..58071860hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033159
SamplesNA12878
Known GenesDAB1
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)nsv3054072
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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