A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001451



Internal ID18743982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63532168..63577473hg38UCSC Ensembl
Innerchr1:63997839..64043144hg19UCSC Ensembl
Innerchr1:63770427..63815732hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3845306
hg1945306
hg1845306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3466883
Samples
Known GenesDLEU2L, EFCAB7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001451
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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