A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511107



Internal ID15478601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:71062479..71121307hg38UCSC Ensembl
Outerchr5:70358306..70417134hg19UCSC Ensembl
Outerchr5:70394062..70452890hg18UCSC Ensembl
Outerchr5:70394062..70452890hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3858829
hg1958829
hg1858829
hg1758829
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621583, nssv622371
SamplesNA15510, NA10860
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
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)nsv511107
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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