A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14034267



Internal ID21165455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38477234..38477234hg38UCSC Ensembl
chr15:38769435..38769435hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3064695
Supporting Variants
SamplesNA12878
Known GenesFAM98B
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)nssv14034267
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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