A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6498



Internal ID15190680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24530980..24570487hg38UCSC Ensembl
Outerchr12:24683914..24723421hg19UCSC Ensembl
Outerchr12:24575181..24614688hg18UCSC Ensembl
Outerchr12:24575181..24614688hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3839508
hg1939508
hg1839508
hg1739508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv645
Supporting Variants
SamplesNA12156
Known GenesLINC00477, SOX5
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)nssv6498
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