A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030147



Internal ID21162720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44510749..44510800hg38UCSC Ensembl
chr3:44552241..44552292hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3053974
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14030147
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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