A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622525



Internal ID15474412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69907670..70533921hg38UCSC Ensembl
Outerchr5:69203497..69829748hg19UCSC Ensembl
Outerchr5:69239253..69865504hg18UCSC Ensembl
Outerchr5:69239253..69865504hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38626252
hg19626252
hg18626252
hg17626252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508367
Supporting Variants
SamplesNA18994
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)nssv622525
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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