A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700108



Internal ID15090074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:53755908..53949955hg38UCSC Ensembl
InnerchrX:53782406..53976388hg19UCSC Ensembl
InnerchrX:53799131..53993113hg18UCSC Ensembl
InnerchrX:53665427..53859409hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38194048
hg19193983
hg18193983
hg17193983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524220
Supporting Variants
Samples
Known GenesPHF8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700108
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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