A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521612



Internal ID15448905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238370200..238566964hg38UCSC Ensembl
Innerchr1:238533500..238730264hg19UCSC Ensembl
Innerchr1:236600123..236796887hg18UCSC Ensembl
Innerchr1:234859541..235056305hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38196765
hg19196765
hg18196765
hg17196765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694466
Samples
Known GenesLINC01139
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521612
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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