A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3061231



Internal ID21176690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2682851..2682851hg38UCSC Ensembl
chr12:2792017..2792017hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019295
SamplesCHM1
Known GenesCACNA1C, CACNA1C-AS1
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)nsv3061231
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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