A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959352



Internal ID18857599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:130078577..130078632hg38UCSC Ensembl
OuterchrX:129212552..129212607hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110098
Supporting Variants
SamplesKWS1
Known GenesELF4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959352
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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