A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125918



Internal ID19260645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:90350476..90359716hg38UCSC Ensembl
Outerchr7:89979790..89989030hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg389241
hg199241
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984122, nssv3988391
SamplesKWS2, KWS1
Known GenesGTPBP10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125918
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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