A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv310n54



Internal ID22768205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72084153..72252060hg38UCSC Ensembl
chr1:72549836..72717743hg19UCSC Ensembl
chr1:72322424..72490331hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38167908
hg19167908
hg18167908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546481, nsv546482, nsv546480
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv310n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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