A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978425



Internal ID19235278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:1641307..1642707hg38UCSC Ensembl
OuterchrY:1710200..1711600hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140089
Supporting Variants
SamplesKWS2
Known GenesASMT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978425
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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