A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv590



Internal ID15545296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150319234..150331615hg38UCSC Ensembl
Outerchr6:150640370..150652751hg19UCSC Ensembl
Outerchr6:150682063..150694444hg18UCSC Ensembl
Outerchr6:150732484..150744865hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3812382
hg1912382
hg1812382
hg1712382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5538
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv590
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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