A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129086



Internal ID19260405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:74790965..74795965hg38UCSC Ensembl
OuterchrX:74010800..74015800hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961759
SamplesKWS1
Known GenesKIAA2022
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129086
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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