A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107177



Internal ID21426319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107827600..107827689hg38UCSC Ensembl
chr2:108444056..108444145hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581633
Supporting Variants
SamplesHG00731
Known GenesRGPD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107177
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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