A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17456578



Internal ID22514456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101793255..101795285hg38UCSC Ensembl
chr12:102187033..102189063hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382031
hg192031
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857822
Supporting Variants
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17456578
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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