A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498004



Internal ID20871212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45077584..45079208hg38UCSC Ensembl
chr17:43154952..43156576hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035887
Samples
Known GenesNMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498004
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer