A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905308



Internal ID4349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6159983..6160396hg38UCSC Ensembl
chr1:6220043..6220456hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138741
Supporting Variants
Samples
Known GenesCHD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.113298


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