A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765583



Internal ID18967775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44226400..44228001hg38UCSC Ensembl
chr7:44265999..44267600hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075949
Supporting Variants
SamplesKWP1
Known GenesCAMK2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765583
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