A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110498



Internal ID19255413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:116718746..116726246hg38UCSC Ensembl
Outerchr7:116358800..116366300hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960149
SamplesKWS1
Known GenesMET
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110498
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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