A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999046



Internal ID16945312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28094855..28118154hg38UCSC Ensembl
Outerchr15:28340001..28363300hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3823300
hg1923300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952579
Supporting Variants
SamplesBILGI_BIOE
Known GenesHERC2, OCA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999046
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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