A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144323



Internal ID18905664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153673345..153673845hg38UCSC Ensembl
OuterchrX:152938800..152939300hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995063
SamplesKWS1
Known GenesPNCK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144323
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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