A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146372



Internal ID19196948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:86113595..86122196hg38UCSC Ensembl
OuterchrX:85368599..85377200hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg388602
hg198602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999575
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146372
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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