A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128373



Internal ID18918484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148866502..148866556hg38UCSC Ensembl
Outerchr7:148563594..148563648hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958689
SamplesKWS1
Known GenesEZH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128373
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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