A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523064



Internal ID15103671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129450883..129524365hg38UCSC Ensembl
InnerchrX:128584860..128658342hg19UCSC Ensembl
InnerchrX:128412541..128486023hg18UCSC Ensembl
InnerchrX:128310395..128383877hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3873483
hg1973483
hg1873483
hg1773483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698750
Samples
Known GenesSMARCA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523064
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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