A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912485



Internal ID9076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38728121..38745253hg38UCSC Ensembl
chr2:38955263..38972395hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3817133
hg1917133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140219
Supporting Variants
Samples
Known GenesGALM, SRSF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912485
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.020612


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