A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604



Internal ID15204223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9991440..10007841hg38UCSC Ensembl
Outerchr12:10144039..10160440hg19UCSC Ensembl
Outerchr12:10035306..10051707hg18UCSC Ensembl
Outerchr12:10035306..10051707hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3816402
hg1916402
hg1816402
hg1716402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8999
SamplesNA12156
Known GenesCLEC1B
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)nsv604
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