A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957012



Internal ID17305885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153071599..153093898hg38UCSC Ensembl
Outerchr1:153044075..153066374hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3822300
hg1922300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003661
SamplesBILGI_BIOE
Known GenesSPRR2B, SPRR2E
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957012
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