A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111389



Internal ID18927243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120374697..120374808hg38UCSC Ensembl
OuterchrX:119508552..119508663hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963503
SamplesKWS1
Known GenesATP1B4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111389
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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