A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519300



Internal ID15099907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:188000286..188212954hg38UCSC Ensembl
Innerchr4:188921440..189134108hg19UCSC Ensembl
Innerchr4:189158434..189371102hg18UCSC Ensembl
Innerchr4:189296589..189509257hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38212669
hg19212669
hg18212669
hg17212669
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663679, nssv696256, nssv655244, nssv699315, nssv680541, nssv656925, nssv696505, nssv699576, nssv697630
Samples
Known GenesTRIML1, TRIML2, ZFP42
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519300
Frequency
Sample Size2026
Observed Gain2
Observed Loss7
Observed Complex0
Frequencyn/a


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