A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14030573



Internal ID21162995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99101899..99102234hg38UCSC Ensembl
chr4:100023050..100023385hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3049921
Supporting Variants
SamplesNA12878
Known GenesLOC100507053
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)nssv14030573
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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