A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001294



Internal ID16947560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238096060..238167459hg38UCSC Ensembl
Outerchr2:239004701..239076100hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3871400
hg1971400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953215
Supporting Variants
SamplesBILGI_BIOE
Known GenesESPNL, KLHL30, SCLY, UBE2F-SCLY
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001294
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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