A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999350



Internal ID16945616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143358831..143442430hg38UCSC Ensembl
Outerchr8:144441001..144524600hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3883600
hg1983600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950012
Supporting Variants
SamplesBILGI_BIOE
Known GenesMAFA, RHPN1, RHPN1-AS1, TOP1MT, ZC3H3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999350
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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