A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547954



Internal ID16335363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154501809..154502501hg38UCSC Ensembl
Innerchr1:154474285..154474977hg19UCSC Ensembl
Innerchr1:152740909..152741601hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724898, nssv724899
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547954
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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