A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000788



Internal ID18743319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:29013..256048hg38UCSC Ensembl
Innerchr4:29013..249837hg19UCSC Ensembl
Innerchr4:19013..239837hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38227036
hg19220825
hg18220825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5065n100
Supporting Variantsnssv3615256
Samples
Known GenesZNF595, ZNF718, ZNF876P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000788
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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