A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246172



Internal ID21306492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40280230..40283871hg38UCSC Ensembl
Outerchr19:40277326..40294167hg38UCSC Ensembl
Innerchr19:40786137..40789778hg19UCSC Ensembl
Outerchr19:40783233..40800074hg19UCSC Ensembl
Innerchr19:45477977..45481618hg18UCSC Ensembl
Outerchr19:45475073..45491914hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816842
hg1916842
hg1816842
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169956
Supporting Variants
SamplesNGO_28
Known GenesAKT2, MIR641
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246172
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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