A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14016321



Internal ID21159610
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 StatusS
Merged Variantsnsv3066272
Supporting Variants
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)nssv14016321
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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