A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953915



Internal ID16956102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46512135..46515534hg38UCSC Ensembl
Outerchr17:44589501..44592900hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998761
SamplesBILGI_BIOE
Known GenesLRRC37A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953915
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