A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126799



Internal ID18915704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76515483..76532883hg38UCSC Ensembl
Outerchr7:76144800..76162200hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817401
hg1917401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985072
SamplesKWS1
Known GenesUPK3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126799
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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