A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130567



Internal ID19283659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:134665247..134665670hg38UCSC Ensembl
Outerchr7:134349999..134350422hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3671n106
Supporting Variantsnssv3986761, nssv3965381
SamplesKWS2, KWS1
Known GenesBPGM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130567
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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