A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672377



Internal ID15062343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18913491..18953944hg38UCSC Ensembl
Innerchr22:18901004..18941457hg19UCSC Ensembl
Innerchr22:17281004..17321457hg18UCSC Ensembl
Innerchr22:17275558..17316011hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3840454
hg1940454
hg1840454
hg1740454
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesPRODH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672377
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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