A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997454



Internal ID16943720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57436803..60344451hg38UCSC Ensembl
Outerchr6:57301601..57316300hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg382907649
hg1914700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950184
Supporting Variants
SamplesBILGI_BIOE
Known GenesPRIM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997454
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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