A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2981237



Internal ID15650394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141583812..141584740hg38UCSC Ensembl
InnerchrX:140671934..140672862hg19UCSC Ensembl
InnerchrX:140499600..140500528hg18UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38929
hg19929
hg18929
Variant TypeCNV gain
Copy Number34
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515177
Supporting Variants
SamplesNA12813
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2981237
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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