A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003895



Internal ID19093113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152554167..152583039hg38UCSC Ensembl
Innerchr1:152526643..152555515hg19UCSC Ensembl
Innerchr1:150793267..150822139hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3828873
hg1928873
hg1828873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv416n100
Supporting Variantsnssv3483468, nssv3495803
Samples
Known GenesLCE3D, LCE3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003895
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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