A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147374



Internal ID19203234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42425047..42431848hg38UCSC Ensembl
OuterchrX:42284299..42291100hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg386802
hg196802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000148
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147374
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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