A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993199



Internal ID19231430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:97509601..97514601hg38UCSC Ensembl
OuterchrX:96764600..96769600hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141693
Supporting Variants
SamplesKWS2
Known GenesDIAPH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993199
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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