A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997643



Internal ID16943909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44999702..45000501hg38UCSC Ensembl
Outerchr7:45039301..45040100hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951641
Supporting Variants
SamplesBILGI_BIOE
Known GenesCCM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997643
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