A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489538



Internal ID21147091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51745101..52075300hg38UCSC Ensembl
chr13:52319237..52649436hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38330200
hg19330200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009693
Samples
Known GenesALG11, ATP7B, CCDC70, DHRS12, LINC00282, NEK5, UTP14C, WDFY2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489538
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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