A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110609



Internal ID19286890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:66182958..66186358hg38UCSC Ensembl
OuterchrX:65402800..65406200hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960264
SamplesKWS1
Known GenesHEPH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110609
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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