A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14035309



Internal ID21166132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138471828..138481244hg38UCSC Ensembl
chr5:137807517..137816933hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389417
hg199417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3063500
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)nssv14035309
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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