A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546780



Internal ID16334189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88791695..88894837hg38UCSC Ensembl
Innerchr1:89257378..89360520hg19UCSC Ensembl
Innerchr1:89029966..89133108hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38103143
hg19103143
hg18103143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360n54
Supporting Variantsnssv1173054, nssv1173052, nssv1173053
SamplesHGDP01005, HGDP01010, HGDP01008
Known GenesGTF2B, PKN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546780
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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