A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060040



Internal ID21431984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100922995..100923314hg38UCSC Ensembl
chr1:101388551..101388870hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5565971
Supporting Variants
SamplesHG00731
Known GenesSLC30A7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060040
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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