A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002425



Internal ID19091642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152554167..152614106hg38UCSC Ensembl
Innerchr1:152526643..152586582hg19UCSC Ensembl
Innerchr1:150793267..150853206hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3859940
hg1959940
hg1859940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499680, nssv3482983, nssv3501229
Samples
Known GenesLCE3B, LCE3C, LCE3D, LCE3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002425
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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