A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997498



Internal ID16943764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104812926..104817025hg38UCSC Ensembl
Outerchr6:105260801..105264900hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950487
Supporting Variants
SamplesBILGI_BIOE
Known GenesHACE1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997498
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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