A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138999



Internal ID338183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19273115..19287674hg38UCSC Ensembl
chr1:19599609..19614168hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3814560
hg1914560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899100
Samples
Known GenesAKR7A3, AKR7L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138999
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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