A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138583



Internal ID18922829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77335982..77336039hg38UCSC Ensembl
Outerchr17:75332064..75332121hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991170
SamplesKWS2
Known GenesSEPT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138583
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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