A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3468788



Internal ID19063030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25336807..25419748hg38UCSC Ensembl
Innerchr1:25663298..25746239hg19UCSC Ensembl
Innerchr1:25535885..25618826hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3882942
hg1982942
hg1882942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009831
Supporting Variants
Samples
Known GenesRHCE, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3468788
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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