A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117461



Internal ID19277218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:68949182..68949319hg38UCSC Ensembl
Outerchr7:68414169..68414306hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964879, nssv3980363
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117461
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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