A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549268



Internal ID15989991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226936959..226961502hg38UCSC Ensembl
Innerchr1:227124660..227149203hg19UCSC Ensembl
Innerchr1:225191283..225215826hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3824544
hg1924544
hg1824544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737366
Samples
Known GenesADCK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549268
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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