A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248396



Internal ID21311645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77738395..77769759hg38UCSC Ensembl
Outerchr2:77737781..77774182hg38UCSC Ensembl
Innerchr2:77965521..77996885hg19UCSC Ensembl
Outerchr2:77964907..78001308hg19UCSC Ensembl
Innerchr2:77819029..77850393hg18UCSC Ensembl
Outerchr2:77818415..77854816hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3836402
hg1936402
hg1836402
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169944
Supporting Variants
SamplesSNI_11
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248396
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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