A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1997



Internal ID15194594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54041145..54073222hg38UCSC Ensembl
Outerchr12:54434929..54467006hg19UCSC Ensembl
Outerchr12:52721196..52753273hg18UCSC Ensembl
Outerchr12:52721196..52753273hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg387946
hg197946
hg187946
hg177946
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv716
Supporting Variants
SamplesNA18555
Known GenesFLJ12825, HOXC4
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)nssv1997
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