A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999430



Internal ID19189510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:1416506..1450307hg38UCSC Ensembl
OuterchrY:1485399..1519200hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg3833802
hg1933802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146220
Supporting Variants
SamplesKWB1
Known GenesASMTL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999430
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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