A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584153



Internal ID16371562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196868518..196888061hg38UCSC Ensembl
Innerchr2:197733242..197752785hg19UCSC Ensembl
Innerchr2:197441487..197461030hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3819544
hg1919544
hg1819544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930347
Samples
Known GenesPGAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584153
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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