A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515758



Internal ID15096365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:100987316..101038566hg38UCSC Ensembl
InnerchrX:100242305..100293555hg19UCSC Ensembl
InnerchrX:100128961..100180211hg18UCSC Ensembl
InnerchrX:100048450..100099700hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3851251
hg1951251
hg1851251
hg1751251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657825, nssv664698, nssv697431
Samples
Known GenesARL13A, TRMT2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515758
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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