A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003043



Internal ID17295995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:148997087..149000386hg38UCSC Ensembl
Outerchr2:149853601..149856900hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955264
Supporting Variants
SamplesBILGI_BIOE
Known GenesKIF5C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003043
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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