A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119632



Internal ID18913667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:24474483..24476783hg38UCSC Ensembl
OuterchrX:24492600..24494900hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982071
SamplesKWS1
Known GenesPDK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119632
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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