A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125090



Internal ID19256200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:43306451..43312851hg38UCSC Ensembl
OuterchrX:43165700..43172100hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg386401
hg196401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4233n106
Supporting Variantsnssv3977895
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125090
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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