A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706048



Internal ID15442700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:32835148..32838674hg38UCSC Ensembl
InnerchrX:32853265..32856791hg19UCSC Ensembl
InnerchrX:32763186..32766712hg18UCSC Ensembl
InnerchrX:32612922..32616448hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg383527
hg193527
hg183527
hg173527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522648
Supporting Variants
Samples
Known GenesDMD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706048
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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