A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113597



Internal ID21423501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6935634..6935696hg38UCSC Ensembl
chr2:7075765..7075827hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570684
Supporting Variants
SamplesHG00731
Known GenesRNF144A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113597
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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