A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800253



Internal ID21245591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55266505..55266505hg38UCSC Ensembl
chr19:55777873..55777873hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13707539
Samples
Known GenesHSPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800253
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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