A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139419



Internal ID18933987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134841594..134841652hg38UCSC Ensembl
OuterchrX:133975624..133975682hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977007
SamplesKWS2
Known GenesFAM122C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139419
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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