A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011365



Internal ID18753899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:78793541..78858569hg38UCSC Ensembl
Innerchr4:79714695..79779723hg19UCSC Ensembl
Innerchr4:79933719..79998747hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3865029
hg1965029
hg1865029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5329n100
Supporting Variantsnssv3742873
Samples
Known GenesBMP2K
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011365
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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