A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327305



Internal ID20860442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227234363..227237075hg38UCSC Ensembl
chr1:227422064..227424776hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382713
hg192713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18058204
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327305
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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