A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503631



Internal ID20876887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43124438..43168868hg38UCSC Ensembl
chr17:41276455..41320885hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3844431
hg1944431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180531
Samples
Known GenesBRCA1, NBR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503631
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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