A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547920



Internal ID15988643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153060930..153126869hg38UCSC Ensembl
Innerchr1:153033406..153099345hg19UCSC Ensembl
Innerchr1:151300030..151365969hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3865940
hg1965940
hg1865940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173203
Samples1780854279_A
Known GenesSPRR2B, SPRR2E, SPRR2F
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547920
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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