A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049234



Internal ID21181282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43391701..43391877hg38UCSC Ensembl
chr1:43857372..43857548hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029844
SamplesNA12878
Known GenesSZT2
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)nsv3049234
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