A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117462



Internal ID19266112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77556653..77556734hg38UCSC Ensembl
Outerchr7:77185970..77186051hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980045
SamplesKWS2
Known GenesPTPN12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117462
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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