A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6606992



Internal ID20980063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44487601..44494900hg38UCSC Ensembl
chr7:44527200..44534499hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18233212
Samples
Known GenesNUDCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6606992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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