A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132779



Internal ID19260719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:108006870..108019770hg38UCSC Ensembl
OuterchrX:107250100..107263000hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3812901
hg1912901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987570
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132779
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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