A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518623



Internal ID15099230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142698228..142784763hg38UCSC Ensembl
Innerchr3:142417070..142503605hg19UCSC Ensembl
Innerchr3:143899760..143986295hg18UCSC Ensembl
Innerchr3:143899768..143986303hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3886536
hg1986536
hg1886536
hg1786536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv300n21
Supporting Variantsnssv696071
Samples
Known GenesPLS1, TRPC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518623
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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