A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954048



Internal ID16956235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6414241..6500740hg38UCSC Ensembl
Outerchr1:6474301..6560800hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3886500
hg1986500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001645
SamplesBILGI_BIOE
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954048
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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