A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498296



Internal ID20871505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42753958..42770706hg38UCSC Ensembl
chr17:40905976..40922724hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3816749
hg1916749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035651
Samples
Known GenesRAMP2, RAMP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498296
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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