A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3475807



Internal ID18720015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88932165..88988906hg38UCSC Ensembl
Innerchr1:89397848..89454589hg19UCSC Ensembl
Innerchr1:89170436..89227177hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3856742
hg1956742
hg1856742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007584
Supporting Variants
Samples
Known GenesCCBL2, RBMXL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3475807
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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