A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14031084



Internal ID21153324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67311533..67311533hg38UCSC Ensembl
chr12:67705313..67705313hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3059564
Supporting Variants
SamplesCHM1
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)nssv14031084
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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