A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14021735



Internal ID21158162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27961322..27961322hg38UCSC Ensembl
chr12:28114255..28114255hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061233
Supporting Variants
SamplesCHM1
Known GenesPTHLH
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)nssv14021735
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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