A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14036134



Internal ID21166691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109055401..109055401hg38UCSC Ensembl
chr12:109493206..109493206hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3064412
Supporting Variants
SamplesNA12878
Known GenesUSP30
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)nssv14036134
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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