A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902788



Internal ID2676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52447360..52448716hg38UCSC Ensembl
chr1:52913032..52914388hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381357
hg191357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422312
Supporting Variants
Samples
Known GenesZCCHC11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902788
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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