A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591148



Internal ID16378557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100055876..100186959hg38UCSC Ensembl
Innerchr3:99774720..99905803hg19UCSC Ensembl
Innerchr3:101257410..101388493hg18UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38131084
hg19131084
hg18131084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv970678
Samples
Known GenesCMSS1, FILIP1L, TMEM30C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591148
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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