A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17473054



Internal ID22530946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29667215..29673664hg38UCSC Ensembl
chr17:27994233..28000682hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386450
hg196450
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875656
Supporting Variants
Samples
Known GenesSSH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17473054
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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