A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548903



Internal ID15989626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198519360..198620446hg38UCSC Ensembl
Innerchr1:198488490..198589576hg19UCSC Ensembl
Innerchr1:196755113..196856199hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38101087
hg19101087
hg18101087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734250
Samples
Known GenesATP6V1G3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548903
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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