A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5855315



Internal ID22630250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60776619..60777818hg38UCSC Ensembl
chr8:61689178..61690377hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17507507
Samples
Known GenesCHD7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5855315
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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