A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248077



Internal ID21309492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77749572..77769759hg38UCSC Ensembl
Outerchr2:77746919..77774182hg38UCSC Ensembl
Innerchr2:77976698..77996885hg19UCSC Ensembl
Outerchr2:77974045..78001308hg19UCSC Ensembl
Innerchr2:77830206..77850393hg18UCSC Ensembl
Outerchr2:77827553..77854816hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3827264
hg1927264
hg1827264
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169944
Supporting Variants
SamplesNGO_50
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248077
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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