A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702112



Internal ID15092078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:148833079..150525125hg38UCSC Ensembl
InnerchrX:147914603..149693581hg19UCSC Ensembl
InnerchrX:147722295..149444239hg18UCSC Ensembl
InnerchrX:147620149..149364149hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381692047
hg191778979
hg181721945
hg171744001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525908
Supporting Variants
Samples
Known GenesAFF2, CXorf40A, CXorf40B, HSFX1, HSFX2, IDS, LINC00893, LINC00894, MAGEA11, MAGEA8, MAGEA8-AS1, MAGEA9, MAGEA9B, MAMLD1, MIR2114, TMEM185A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702112
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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