A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522147



Internal ID15102754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:73872847..74518151hg38UCSC Ensembl
Innerchr1:74338530..74983835hg19UCSC Ensembl
Innerchr1:74111118..74756423hg18UCSC Ensembl
Innerchr1:74050551..74695856hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38645305
hg19645306
hg18645306
hg17645306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694920
Samples
Known GenesFPGT, FPGT-TNNI3K, LRRIQ3, TNNI3K
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522147
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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