A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14034594



Internal ID21156832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56558335..56558335hg38UCSC Ensembl
chr12:56952119..56952119hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3065925
Supporting Variants
SamplesCHM1
Known GenesRBMS2
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)nssv14034594
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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