A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001219



Internal ID19090436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:21516422..21578800hg38UCSC Ensembl
Innerchr4:21518045..21580423hg19UCSC Ensembl
Innerchr4:21127143..21189521hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3862379
hg1962379
hg1862379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5153n100
Supporting Variantsnssv3619908, nssv3619907, nssv3619905, nssv3619906
Samples
Known GenesKCNIP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001219
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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