A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130123



Internal ID19272291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36313068..36313153hg38UCSC Ensembl
Outerchr7:36352677..36352762hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3526n106
Supporting Variantsnssv3966030
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130123
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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