A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461443



Internal ID21118996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53049512..53068781hg38UCSC Ensembl
chr12:53443296..53462565hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3819270
hg1919270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196003
Samples
Known GenesLOC283335, MIR6757, SPRYD3, TENC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461443
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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