A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995



Internal ID15192036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:25244577..25343878hg38UCSC Ensembl
Outerchr1:25571068..25670369hg19UCSC Ensembl
Outerchr1:25443655..25542956hg18UCSC Ensembl
Outerchr1:25316374..25415685hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3899302
hg1999302
hg1899302
hg1799312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7298
Supporting Variants
SamplesNA12878
Known GenesC1orf63, RHD, TMEM50A
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)nssv3995
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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