A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14028908



Internal ID21161878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27610167..27610303hg38UCSC Ensembl
chr12:27763100..27763236hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3044959
Supporting Variants
SamplesNA12878
Known GenesPPFIBP1
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)nssv14028908
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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