A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508367



Internal ID15480043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69907670..70678746hg38UCSC Ensembl
Outerchr5:69203497..69974573hg19UCSC Ensembl
Outerchr5:69239253..70010329hg18UCSC Ensembl
Outerchr5:69239253..70010329hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38771077
hg19771077
hg18771077
hg17771077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618770, nssv622525, nssv618773, nssv619959
SamplesNA18994, NA15510, NA10860
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
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)nsv508367
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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