A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065324



Internal ID21196759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149550689..149552364hg38UCSC Ensembl
chr3:149268476..149270151hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381676
hg191676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034358
SamplesCHM1
Known GenesWWTR1
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)nsv3065324
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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