A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002765



Internal ID19091982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9632366hg38UCSC Ensembl
Innerchr4:9370690..9633990hg19UCSC Ensembl
Innerchr4:8979788..9243088hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38263403
hg19263301
hg18263301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3613266, nssv3738186
Samples
Known GenesDEFB131, LOC650293, MIR548I2, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002765
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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