A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546577



Internal ID16333986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74339149..74408787hg38UCSC Ensembl
Innerchr1:74804833..74874471hg19UCSC Ensembl
Innerchr1:74577421..74647059hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3869639
hg1969639
hg1869639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173021
SamplesNINDS_142
Known GenesFPGT-TNNI3K, TNNI3K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546577
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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