A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251706



Internal ID21311739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47247989..47263416hg38UCSC Ensembl
Outerchr1:47246596..47266392hg38UCSC Ensembl
Innerchr1:47713661..47729088hg19UCSC Ensembl
Outerchr1:47712268..47732064hg19UCSC Ensembl
Innerchr1:47486248..47501675hg18UCSC Ensembl
Outerchr1:47484855..47504651hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3819797
hg1919797
hg1819797
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170187
Supporting Variants
SamplesSNI_12
Known GenesSTIL
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251706
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer