A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4411



Internal ID15192452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36341587..36348870hg38UCSC Ensembl
Outerchr2:36568730..36576013hg19UCSC Ensembl
Outerchr2:36422234..36429517hg18UCSC Ensembl
Outerchr2:36480381..36487664hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg386442
hg196442
hg186442
hg176442
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2680
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4411
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