A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3488247



Internal ID19075888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117438133..117512150hg38UCSC Ensembl
Innerchr1:117980755..118054772hg19UCSC Ensembl
Innerchr1:117782278..117856295hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3874018
hg1974018
hg1874018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003281
Supporting Variants
Samples
Known GenesMAN1A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3488247
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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