A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1988



Internal ID15194585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26384446..26416191hg38UCSC Ensembl
Outerchr12:26537379..26569124hg19UCSC Ensembl
Outerchr12:26428646..26460391hg18UCSC Ensembl
Outerchr12:26428646..26460391hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg388282
hg198282
hg188282
hg178282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv649
Supporting Variants
SamplesNA18555
Known GenesITPR2
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)nssv1988
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