A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv164n54



Internal ID22768059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16706322..16776915hg38UCSC Ensembl
chr1:17032817..17103410hg19UCSC Ensembl
chr1:16905404..16975997hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3870594
hg1970594
hg1870594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545664, nsv545668
Samples
Known GenesESPNP, LOC729574, MST1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv164n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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