A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072069



Internal ID19321594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216690476..216693777hg38UCSC Ensembl
chr2:217555199..217558500hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764707
SamplesKWP1
Known GenesIGFBP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072069
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