A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052949



Internal ID21184983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124839893..124839893hg38UCSC Ensembl
chr12:125324439..125324439hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026206
SamplesNA12878
Known GenesSCARB1
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)nsv3052949
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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