A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14029300



Internal ID21162147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67311543..67311543hg38UCSC Ensembl
chr12:67705323..67705323hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057041
Supporting Variants
SamplesNA12878
Known GenesCAND1
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)nssv14029300
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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