A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889795



Internal ID167294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144894587..144900587hg38UCSC Ensembl
chr1:206571533..206577528hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386001
hg195996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138025
Supporting Variants
Samples
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889795
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009855


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