A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998445



Internal ID16944711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180164566..180200265hg38UCSC Ensembl
Outerchr1:180133701..180169400hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3835700
hg1935700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952285
Supporting Variants
SamplesBILGI_BIOE
Known GenesFLJ23867, QSOX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998445
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