A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897405



Internal ID172425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15420732..15422305hg38UCSC Ensembl
chr1:15747228..15748801hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381574
hg191574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416862
Supporting Variants
Samples
Known GenesEFHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897405
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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