A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993238



Internal ID19246777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11085224..11205224hg38UCSC Ensembl
OuterchrY:13240900..13360900hg19UCSC Ensembl
CytobandYq11.1
Allele length
AssemblyAllele length
hg38120001
hg19120001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141732
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993238
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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