A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122272



Internal ID18933400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153687745..153689445hg38UCSC Ensembl
OuterchrX:152953200..152954900hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969719
SamplesKWS2
Known GenesSLC6A8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122272
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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