A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001524



Internal ID19193631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:64296819..64302520hg38UCSC Ensembl
OuterchrX:63516699..63522400hg19UCSC Ensembl
CytobandXq11.2
Allele length
AssemblyAllele length
hg385702
hg195702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148014
Supporting Variants
SamplesKWB1
Known GenesMTMR8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001524
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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