A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516210



Internal ID15096817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143533025..143615483hg38UCSC Ensembl
Innerchr8:144615195..144697653hg19UCSC Ensembl
Innerchr8:144686338..144768796hg18UCSC Ensembl
Innerchr8:144686338..144768796hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3882459
hg1982459
hg1882459
hg1782459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv669057, nssv688537, nssv656600, nssv662870, nssv657960, nssv679976, nssv661241, nssv680102, nssv697287, nssv671663, nssv656372, nssv678918, nssv701314, nssv680783, nssv689298, nssv683035, nssv688015, nssv655982, nssv682249, nssv669128, nssv666839, nssv655075, nssv679483, nssv680416, nssv677886, nssv660204, nssv684285, nssv680459, nssv677040, nssv673102, nssv662894, nssv679311, nssv685503, nssv671277
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3, ZC3H3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516210
Frequency
Sample Size2026
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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