A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999006



Internal ID16945272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3051037..3812036hg38UCSC Ensembl
Outerchr1:2967601..3728600hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38761000
hg19761000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951959
Supporting Variants
SamplesBILGI_BIOE
Known GenesARHGEF16, CCDC27, LINC00982, LRRC47, MEGF6, MIR4251, MIR551A, PRDM16, SMIM1, TP73, TP73-AS1, TPRG1L, WRAP73
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999006
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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