A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006332



Internal ID18748863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70295888..70412931hg38UCSC Ensembl
Innerchr4:71161605..71278648hg19UCSC Ensembl
Innerchr4:71196194..71313237hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38117044
hg19117044
hg18117044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3742867, nssv3633075
Samples
Known GenesCABS1, PROL1, SMR3A, SMR3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006332
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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