A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17444479



Internal ID22502349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60867883..60868513hg38UCSC Ensembl
chr8:61780442..61781072hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5923397
Supporting Variants
Samples
Known GenesCHD7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17444479
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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