A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997972



Internal ID16944238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46245865..46255764hg38UCSC Ensembl
Outerchr10:47617101..47627000hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg389900
hg199900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951581
Supporting Variants
SamplesBILGI_BIOE
Known GenesANTXRLP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997972
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