A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148683



Internal ID19196282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:58519266..58555567hg38UCSC Ensembl
OuterchrX:58545699..58582000hg19UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3836302
hg1936302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997469
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148683
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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