A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516643



Internal ID15097250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:51760517..52256843hg38UCSC Ensembl
InnerchrX:51503613..51999970hg19UCSC Ensembl
InnerchrX:51520353..52016710hg18UCSC Ensembl
InnerchrX:51336649..51833006hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38496327
hg19496358
hg18496358
hg17496358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691092, nssv691741, nssv691257, nssv673939, nssv675395, nssv659516, nssv669824, nssv701185
Samples
Known GenesMAGED1, MAGED4, MAGED4B, SNORA11D, SNORA11E
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516643
Frequency
Sample Size2026
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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