A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978808



Internal ID19246365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11272124..11331224hg38UCSC Ensembl
OuterchrY:13427800..13486900hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3859101
hg1959101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140097
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978808
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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