A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903034



Internal ID2838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56575669..56578867hg38UCSC Ensembl
chr1:57041342..57044540hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383199
hg193199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431645
Supporting Variants
Samples
Known GenesPPAP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903034
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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