A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129113



Internal ID19257855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:1415807..1450307hg38UCSC Ensembl
OuterchrY:1484700..1519200hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg3834501
hg1934501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961787
SamplesKWS1
Known GenesASMTL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129113
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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