A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950169



Internal ID17299043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43068163..43080562hg38UCSC Ensembl
Outerchr6:43035901..43048300hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3812400
hg1912400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997441
SamplesBILGI_BIOE
Known GenesKLC4, PTK7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950169
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