A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926528



Internal ID22701755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6575003..6575129hg38UCSC Ensembl
chr12:6684169..6684295hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366672
Samples
Known GenesCHD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926528
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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