A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950775



Internal ID16952962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62623530..62630629hg38UCSC Ensembl
Outerchr1:63089201..63096300hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387100
hg197100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997156
SamplesBILGI_BIOE
Known GenesDOCK7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950775
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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