A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380712



Internal ID22438582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4771652..4771714hg38UCSC Ensembl
chr1:4831712..4831774hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882575
Supporting Variants
Samples
Known GenesAJAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380712
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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