A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996500



Internal ID18844000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101034218..101042919hg38UCSC Ensembl
Outerchr7:100677499..100686200hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388702
hg198702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147714
Supporting Variants
SamplesKWB1
Known GenesMUC17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996500
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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