A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002789



Internal ID18745321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87318188..87685333hg38UCSC Ensembl
Innerchr4:88239340..88606485hg19UCSC Ensembl
Innerchr4:88458364..88825509hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38367146
hg19367146
hg18367146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3742880
Samples
Known GenesDMP1, DSPP, HSD17B11, HSD17B13, NUDT9, SPARCL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002789
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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