A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251198



Internal ID21309539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541857..143764768hg38UCSC Ensembl
Outerchr1:143538619..143778901hg38UCSC Ensembl
Innerchr1:149036524..149259416hg19UCSC Ensembl
Outerchr1:149024808..149273545hg19UCSC Ensembl
Innerchr1:147303148..147526040hg18UCSC Ensembl
Outerchr1:147291432..147540169hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38240283
hg19248738
hg18248738
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169781
Supporting Variants
SamplesNGO_50
Known GenesLOC101929780, NBPF23
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251198
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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