A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519291



Internal ID8413566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91775128..91783138hg38UCSC Ensembl
Innerchr1:92240685..92248695hg19UCSC Ensembl
Innerchr1:92013273..92021283hg18UCSC Ensembl
Innerchr1:91952706..91960716hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg388011
hg198011
hg188011
hg178011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689194, nssv655226
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519291
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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