A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549148



Internal ID16336557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212703560..212788865hg38UCSC Ensembl
Innerchr1:212876902..212962207hg19UCSC Ensembl
Innerchr1:210943525..211028830hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3885306
hg1985306
hg1885306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736861
Samples
Known GenesNSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549148
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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