A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130868



Internal ID19285487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140481954..140490547hg38UCSC Ensembl
Outerchr7:140181754..140190347hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg388594
hg198594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967569
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130868
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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