A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491596



Internal ID21149149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29587257..29590340hg38UCSC Ensembl
chr13:30161394..30164477hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383084
hg193084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18007859
Samples
Known GenesSLC7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491596
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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