A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800549



Internal ID21245887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103621118..103621196hg38UCSC Ensembl
chr1:104163740..104163818hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13696520
Samples
Known GenesAMY2A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800549
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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