A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046292



Internal ID21178338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99589075..99589075hg38UCSC Ensembl
chr4:100510232..100510232hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027403
SamplesNA12878
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)nsv3046292
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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