A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141051



Internal ID18917130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16854934..16854987hg38UCSC Ensembl
OuterchrX:16873057..16873110hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992565
SamplesKWS2
Known GenesRBBP7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141051
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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