A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959807



Internal ID19213569
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 StatusS
Merged Variantsnsv1119367
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959807
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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