A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14034657



Internal ID21165727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:25275280..25275610hg38UCSC Ensembl
chr5:25275389..25275719hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063532
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)nssv14034657
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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