A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020916



Internal ID21155403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99589073..99589073hg38UCSC Ensembl
chr4:100510230..100510230hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38639
hg19639
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3062207
Supporting Variants
SamplesCHM1
Known GenesMTTP
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)nssv14020916
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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