A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17505659



Internal ID22563603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118615965..118701207hg38UCSC Ensembl
chr8:119628204..119713446hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3885243
hg1985243
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5862664
Supporting Variants
Samples
Known GenesSAMD12, SAMD12-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17505659
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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