A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993193



Internal ID19247201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73381364..73386864hg38UCSC Ensembl
OuterchrX:72601200..72606700hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141687
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993193
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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