A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331657



Internal ID20864822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74470694..74471163hg38UCSC Ensembl
chr1:74936378..74936847hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18063951
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331657
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