A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546575



Internal ID16333984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74277350..74356153hg38UCSC Ensembl
Innerchr1:74743034..74821837hg19UCSC Ensembl
Innerchr1:74515622..74594425hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3878804
hg1978804
hg1878804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv717542, nssv717543
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)nsv546575
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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