A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508240



Internal ID15479916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128347675..128482477hg38UCSC Ensembl
Outerchr3:128066518..128201320hg19UCSC Ensembl
Outerchr3:129549208..129684010hg18UCSC Ensembl
Outerchr3:129549216..129684018hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38134803
hg19134803
hg18134803
hg17134803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619921
SamplesNA15510
Known GenesDNAJB8, DNAJB8-AS1, EEFSEC, GATA2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv508240
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer