A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv755



Internal ID15205884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:46543645..46575358hg38UCSC Ensembl
Outerchr1:47009317..47041030hg19UCSC Ensembl
Outerchr1:46781904..46813617hg18UCSC Ensembl
Outerchr1:46721337..46753050hg17UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg387784
hg197784
hg187784
hg177784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10857
SamplesNA18956
Known GenesKNCN, MKNK1, MKNK1-AS1
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)nsv755
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