A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147969



Internal ID18850283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137818431..137819630hg38UCSC Ensembl
Outerchr9:140712883..140714082hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001477
SamplesKWB1
Known GenesEHMT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147969
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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