A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549193



Internal ID15989916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215880744..215893095hg38UCSC Ensembl
Innerchr1:216054086..216066437hg19UCSC Ensembl
Innerchr1:214120709..214133060hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3812352
hg1912352
hg1812352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736957, nssv1174045
Samples1798860114_A
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549193
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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