A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385125



Internal ID22442995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6300461..6300521hg38UCSC Ensembl
chr1:6360521..6360581hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869311
Supporting Variants
Samples
Known GenesACOT7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385125
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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