A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148115



Internal ID19196127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148124779..148129280hg38UCSC Ensembl
OuterchrX:147206299..147210800hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001625
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148115
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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