A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517697



Internal ID8411972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181180883..181263936hg38UCSC Ensembl
Innerchr5:180607883..180690937hg19UCSC Ensembl
Innerchr5:180540489..180623543hg18UCSC Ensembl
Innerchr5:180540489..180623543hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3883054
hg1983055
hg1883055
hg1783055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663548, nssv652878, nssv671379, nssv702615, nssv682664, nssv674572, nssv675238, nssv674573, nssv675239
Samples
Known GenesGNB2L1, LOC102577426, MIR4638, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1, TRIM7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517697
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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