A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139417



Internal ID19274786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123926655..123926718hg38UCSC Ensembl
OuterchrX:123060505..123060568hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977004
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139417
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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