A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546888



Internal ID16334297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99954311..100084889hg38UCSC Ensembl
Innerchr1:100419867..100550445hg19UCSC Ensembl
Innerchr1:100192455..100323033hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38130579
hg19130579
hg18130579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719664
Samples
Known GenesHIAT1, SASS6, SLC35A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546888
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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