A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546576



Internal ID16333985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74311124..74339149hg38UCSC Ensembl
Innerchr1:74776808..74804833hg19UCSC Ensembl
Innerchr1:74549396..74577421hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3828026
hg1928026
hg1828026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv717544
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546576
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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