A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065278



Internal ID21196714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45517816..45517912hg38UCSC Ensembl
chr1:45983488..45983584hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036978
SamplesCHM1
Known GenesPRDX1
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)nsv3065278
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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