A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546256



Internal ID16333665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53128704..53140212hg38UCSC Ensembl
Innerchr1:53594376..53605884hg19UCSC Ensembl
Innerchr1:53366964..53378472hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3811509
hg1911509
hg1811509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713205
Samples
Known GenesSLC1A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546256
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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