A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124482



Internal ID19286989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130708547..130708604hg38UCSC Ensembl
Outerchr9:133583934..133583991hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975775
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124482
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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