A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510957



Internal ID15826979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:45261853..45339865hg38UCSC Ensembl
Outerchr7:45301452..45379464hg19UCSC Ensembl
Outerchr7:45267977..45345989hg18UCSC Ensembl
Outerchr7:45074692..45152704hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3878013
hg1978013
hg1878013
hg1778013
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624314
SamplesNA18994
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv510957
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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