A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547754



Internal ID15988477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143551597..143687709hg38UCSC Ensembl
Innerchr1:149046267..149182348hg19UCSC Ensembl
Innerchr1:147312891..147448972hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38136113
hg19136082
hg18136082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n54
Supporting Variantsnssv723348
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547754
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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