A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007584



Internal ID18750115
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 StatusM
Merged Variantsdgv207n100
Supporting Variantsnssv3475807
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)nsv1007584
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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