A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005047



Internal ID19094264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152663840..152684114hg38UCSC Ensembl
Innerchr1:152636316..152656590hg19UCSC Ensembl
Innerchr1:150902940..150923214hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3820275
hg1920275
hg1820275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489854
Samples
Known GenesLCE2C, LCE2D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005047
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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