A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521384



Internal ID8415659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:22198650..22953327hg38UCSC Ensembl
InnerchrX:22216767..22971444hg19UCSC Ensembl
InnerchrX:22126688..22881365hg18UCSC Ensembl
InnerchrX:21976424..22731101hg17UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38754678
hg19754678
hg18754678
hg17754678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697994
Samples
Known GenesLOC100873065, PHEX, ZNF645
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521384
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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