A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248200



Internal ID21306652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77749572..77769540hg38UCSC Ensembl
Outerchr2:77746919..77769744hg38UCSC Ensembl
Innerchr2:77976698..77996666hg19UCSC Ensembl
Outerchr2:77974045..77996870hg19UCSC Ensembl
Innerchr2:77830206..77850174hg18UCSC Ensembl
Outerchr2:77827553..77850378hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3822826
hg1922826
hg1822826
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169944
Supporting Variants
SamplesNGO_29
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248200
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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