A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17476431



Internal ID22534329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75405161..75411928hg38UCSC Ensembl
chr17:73401242..73408009hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386768
hg196768
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868676
Supporting Variants
Samples
Known GenesGRB2, MIR3678
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17476431
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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