A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993203



Internal ID19245461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103891779..103898879hg38UCSC Ensembl
OuterchrX:103146700..103153800hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141697
Supporting Variants
SamplesKWS2
Known GenesMIR1256
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993203
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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