A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999273



Internal ID19186826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95519463..95519726hg38UCSC Ensembl
OuterchrX:45587582..45587861hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38264
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152091
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999273
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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