A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976320



Internal ID19232769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:76034021..76034331hg38UCSC Ensembl
OuterchrX:75253856..75254166hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141070
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976320
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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