A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14033910



Internal ID21156140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149875898..149875898hg38UCSC Ensembl
chr3:149593685..149593685hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3066390
Supporting Variants
SamplesCHM1
Known GenesRNF13
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)nssv14033910
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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