A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6604644



Internal ID20977715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123149701..123212700hg38UCSC Ensembl
chr7:122789755..122852754hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3863000
hg1963000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18233719
Samples
Known GenesSLC13A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6604644
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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