A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997646



Internal ID16943912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:45608502..45613401hg38UCSC Ensembl
Outerchr7:45648101..45653000hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950211
Supporting Variants
SamplesBILGI_BIOE
Known GenesADCY1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997646
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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