A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062016



Internal ID21193621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200816848..200816950hg38UCSC Ensembl
chr1:200785976..200786078hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031980
SamplesCHM1
Known GenesCAMSAP2
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)nsv3062016
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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