A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3049225



Internal ID21181273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41531574..41531696hg38UCSC Ensembl
chr1:41997245..41997367hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14030739
SamplesNA12878
Known GenesHIVEP3
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)nsv3049225
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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