A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119224



Internal ID18938104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74048770..74050670hg38UCSC Ensembl
Outerchr7:73463100..73465000hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959659
SamplesKWS1
Known GenesELN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119224
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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