A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139400



Internal ID18920345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47233763..47233816hg38UCSC Ensembl
OuterchrX:47093162..47093215hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986994, nssv3976987
SamplesKWS2, KWS1
Known GenesUSP11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139400
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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