A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517520



Internal ID15098127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143352880..143400007hg38UCSC Ensembl
Innerchr7:143049973..143097100hg19UCSC Ensembl
Innerchr7:142760095..142807222hg18UCSC Ensembl
Innerchr7:142566810..142613937hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3847128
hg1947128
hg1847128
hg1747128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663766, nssv671532, nssv660138, nssv658567, nssv652294, nssv666309, nssv678482, nssv652261, nssv670866, nssv686691, nssv691992, nssv683655, nssv690766
Samples
Known GenesEPHA1, FAM131B, MIR6892, ZYX
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517520
Frequency
Sample Size2026
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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