A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137573



Internal ID18937012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6745069..6747569hg38UCSC Ensembl
Outerchr7:6784700..6787200hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3486n106
Supporting Variantsnssv3990077
SamplesKWS2
Known GenesPMS2CL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137573
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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