A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048777



Internal ID21180825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48057032..48057102hg38UCSC Ensembl
chr12:48450815..48450885hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034250
SamplesNA12878
Known GenesSENP1
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)nsv3048777
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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