A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987605



Internal ID19213706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:17041820..17048620hg38UCSC Ensembl
OuterchrY:19153700..19160500hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg386801
hg196801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132813
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987605
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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