A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2799648



Internal ID21244987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8499452..8499452hg38UCSC Ensembl
chr19:8564336..8564336hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13679923
Samples
Known GenesPRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2799648
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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