A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591292



Internal ID16378701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112195777..112275068hg38UCSC Ensembl
Innerchr3:111914624..111993915hg19UCSC Ensembl
Innerchr3:113397314..113476605hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3879292
hg1979292
hg1879292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971516, nssv971515
Samples
Known GenesSLC9C1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591292
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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