A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125119



Internal ID19256164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:110816972..110822272hg38UCSC Ensembl
OuterchrX:110060200..110065500hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4272n106
Supporting Variantsnssv3977924
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125119
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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