A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978459



Internal ID19236767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120343645..120350345hg38UCSC Ensembl
OuterchrX:119477500..119484200hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115897
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978459
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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