A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14015953



Internal ID21155695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95355502..95355502hg38UCSC Ensembl
chr12:95749278..95749278hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061262
Supporting Variants
SamplesCHM1
Known Genes
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)nssv14015953
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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