A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145125



Internal ID18926234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6745169..6747869hg38UCSC Ensembl
Outerchr7:6784800..6787500hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3486n106
Supporting Variantsnssv3982207
SamplesKWS1
Known GenesPMS2CL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145125
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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