A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148646



Internal ID18849810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:37398346..37404147hg38UCSC Ensembl
OuterchrX:37257599..37263400hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg385802
hg195802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000684
SamplesKWB1
Known GenesPRRG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148646
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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