A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149298



Internal ID18851622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129804360..129804410hg38UCSC Ensembl
OuterchrX:128938336..128938386hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002808
SamplesKWB1
Known GenesZDHHC9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149298
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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