A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468192



Internal ID22526081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217475787..217495782hg38UCSC Ensembl
chr1:217649129..217669124hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3819996
hg1919996
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829350
Supporting Variants
Samples
Known GenesGPATCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468192
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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