A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517737



Internal ID15098344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33439283..33451373hg38UCSC Ensembl
Innerchr2:33664350..33676440hg19UCSC Ensembl
Innerchr2:33517854..33529944hg18UCSC Ensembl
Innerchr2:33576001..33588091hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3812091
hg1912091
hg1812091
hg1712091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667065, nssv653055, nssv677531, nssv666734, nssv672285, nssv670391, nssv658174, nssv662837, nssv687051, nssv682742, nssv664686, nssv677276
Samples
Known GenesRASGRP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517737
Frequency
Sample Size2026
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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