A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998546



Internal ID17291498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99142278..99144277hg38UCSC Ensembl
Outerchr7:98739901..98741900hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951378
Supporting Variants
SamplesBILGI_BIOE
Known GenesSMURF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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