A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3057005



Internal ID21176325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27961335..27961335hg38UCSC Ensembl
chr12:28114268..28114268hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027285
SamplesNA12878
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)nsv3057005
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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