A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132782



Internal ID19284486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:112502972..112507572hg38UCSC Ensembl
OuterchrX:111746200..111750800hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4273n106
Supporting Variantsnssv3987573
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132782
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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