A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966604



Internal ID19241383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129917982..129919037hg38UCSC Ensembl
OuterchrX:129051958..129053013hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112507
Supporting Variants
SamplesKWS2
Known GenesUTP14A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966604
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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