A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516934



Internal ID15097541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:152163297..152511752hg38UCSC Ensembl
InnerchrX:151331769..151680224hg19UCSC Ensembl
InnerchrX:151082425..151430880hg18UCSC Ensembl
InnerchrX:151002337..151350792hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38348456
hg19348456
hg18348456
hg17348456
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700707, nssv656957, nssv701165, nssv702040, nssv683872, nssv657732, nssv662872, nssv689600, nssv704500, nssv655052
Samples
Known GenesGABRA3, MIR105-1, MIR105-2, MIR767
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516934
Frequency
Sample Size2026
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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