A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6606672



Internal ID20979743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48254339..48378474hg38UCSC Ensembl
chr7:48293936..48418071hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38124136
hg19124136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18155472
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6606672
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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