A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6526



Internal ID15537337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93224276..93256807hg38UCSC Ensembl
Outerchr12:93618052..93650583hg19UCSC Ensembl
Outerchr12:92142183..92174714hg18UCSC Ensembl
Outerchr12:92120520..92153051hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386907
hg196907
hg186907
hg176907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv820
Supporting Variants
SamplesNA12156
Known GenesLOC643339
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)nssv6526
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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