A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950179



Internal ID16952366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52385103..52400802hg38UCSC Ensembl
Outerchr6:52249901..52265600hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3815700
hg1915700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997450
SamplesBILGI_BIOE
Known GenesPAQR8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950179
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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