A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998873



Internal ID18811723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152896651..153002782hg38UCSC Ensembl
Innerchr1:152869127..152975258hg19UCSC Ensembl
Innerchr1:151135751..151241882hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38106132
hg19106132
hg18106132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499545
Samples
Known GenesIVL, SPRR1A, SPRR3, SPRR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998873
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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