A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148948



Internal ID18855821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152386527..152397428hg38UCSC Ensembl
OuterchrX:151554999..151565900hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3810902
hg1910902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997737
SamplesKWB1
Known GenesGABRA3, MIR105-1, MIR105-2, MIR767
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148948
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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