A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010042



Internal ID18752573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74333172..74536293hg38UCSC Ensembl
Innerchr1:74798856..75001977hg19UCSC Ensembl
Innerchr1:74571444..74774565hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38203122
hg19203122
hg18203122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3469643
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010042
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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