A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119367



Internal ID19259101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:144087194..144090494hg38UCSC Ensembl
OuterchrX:143170300..143173600hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959807
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119367
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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