A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113041



Internal ID19267406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100255502..100257402hg38UCSC Ensembl
OuterchrX:99510500..99512400hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967932
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113041
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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