A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978420



Internal ID19230132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:281433..314633hg38UCSC Ensembl
OuterchrY:148100..181300hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg3833201
hg1933201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140084
Supporting Variants
SamplesKWS2
Known GenesGTPBP6, PLCXD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978420
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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