A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244128



Internal ID21306144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154785946..154835459hg38UCSC Ensembl
Outerchr1:154783967..154837554hg38UCSC Ensembl
Innerchr1:154758422..154807935hg19UCSC Ensembl
Outerchr1:154756443..154810030hg19UCSC Ensembl
Innerchr1:153025046..153074559hg18UCSC Ensembl
Outerchr1:153023067..153076654hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3853588
hg1953588
hg1853588
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169869
Supporting Variants
SamplesNGO_25
Known GenesKCNN3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244128
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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