A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013488



Internal ID18756019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44541791..44974106hg38UCSC Ensembl
Innerchr4:44543808..44976123hg19UCSC Ensembl
Innerchr4:44238565..44670880hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38432316
hg19432316
hg18432316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739364
Samples
Known GenesGNPDA2, GUF1, YIPF7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013488
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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