A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002798



Internal ID18745330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88954378..88988906hg38UCSC Ensembl
Innerchr1:89420061..89454589hg19UCSC Ensembl
Innerchr1:89192649..89227177hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3834529
hg1934529
hg1834529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3699599
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)nsv1002798
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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