A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6402510



Internal ID21060063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83694011..83694560hg38UCSC Ensembl
chr5:82989830..82990379hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18135179
Samples
Known GenesHAPLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6402510
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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