A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2788973



Internal ID21234311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965957..53966044hg38UCSC Ensembl
chr10:55725717..55725804hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13689296
Samples
Known GenesPCDH15
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2788973
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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