A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997515



Internal ID17290467
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 StatusS
Merged Variantsnsv950504
Supporting Variants
SamplesBILGI_BIOE
Known GenesLOC643623
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997515
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer