A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317459



Internal ID20850545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217489679..217646920hg38UCSC Ensembl
chr1:217663021..217820262hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38157242
hg19157242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv532n223
Supporting Variantsnssv18057599
Samples
Known GenesGPATCH2, SPATA17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317459
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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