A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148261



Internal ID19199544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:26179182..26181783hg38UCSC Ensembl
OuterchrX:26197299..26199900hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg382602
hg192602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001770
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148261
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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