A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812351



Internal ID21257689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149776322..149776322hg38UCSC Ensembl
chr6:150097458..150097458hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13697062
Samples
Known GenesPCMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812351
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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