A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145253



Internal ID18936114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:78031384..78032584hg38UCSC Ensembl
Outerchr9:80646300..80647500hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4073n106
Supporting Variantsnssv3982340
SamplesKWS1
Known GenesGNAQ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145253
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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