A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010895



Internal ID19100112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152772473..152804267hg38UCSC Ensembl
Innerchr1:152744949..152776743hg19UCSC Ensembl
Innerchr1:151011573..151043367hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3831795
hg1931795
hg1831795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv429n100
Supporting Variantsnssv3493358
Samples
Known GenesLCE1D, LCE1E, LCE1F
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010895
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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