A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137712



Internal ID19278846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:15999220..16003020hg38UCSC Ensembl
OuterchrY:18111100..18114900hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990212
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137712
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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