A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250730



Internal ID22055340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29649909..29649909hg38UCSC Ensembl
chr17:27976927..27976927hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848207
Samples
Known GenesSSH2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250730
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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