A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119370



Internal ID19277437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:148124580..148129980hg38UCSC Ensembl
OuterchrX:147206100..147211500hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4314n106
Supporting Variantsnssv3959810
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119370
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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