A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950504



Internal ID17299378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125703055..125707554hg38UCSC Ensembl
Outerchr6:126024201..126028700hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997515
SamplesBILGI_BIOE
Known GenesLOC643623
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950504
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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