A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003122



Internal ID16949388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218980979..219032878hg38UCSC Ensembl
Outerchr2:219845701..219897600hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3851900
hg1951900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954839
Supporting Variants
SamplesBILGI_BIOE
Known GenesCCDC108, CRYBA2, FEV, LOC100129175, MIR375
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003122
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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