A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003977



Internal ID16950243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:69591713..69591762hg38UCSC Ensembl
Outerchr2:69818845..69818894hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954240
Supporting Variants
SamplesBILGI_BIOE
Known GenesAAK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003977
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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