A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1078



Internal ID15544790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40503576..40510134hg38UCSC Ensembl
Outerchr12:40897378..40903936hg19UCSC Ensembl
Outerchr12:39183645..39190203hg18UCSC Ensembl
Outerchr12:39183645..39190203hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386604
hg196604
hg186604
hg176604
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv682
Supporting Variants
SamplesNA19240
Known GenesMUC19
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)nssv1078
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