A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119331



Internal ID19283259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16230577..16235477hg38UCSC Ensembl
OuterchrX:16248700..16253600hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4213n106
Supporting Variantsnssv3959769
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119331
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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