A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3066272



Internal ID21197667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124948748..124948869hg38UCSC Ensembl
chr12:125433294..125433415hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14016321
SamplesCHM1
Known GenesDHX37
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)nsv3066272
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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