A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508229



Internal ID15824256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99177687..99199742hg38UCSC Ensembl
Outerchr3:98896531..98918586hg19UCSC Ensembl
Outerchr3:100379221..100401276hg18UCSC Ensembl
Outerchr3:100379221..100401276hg17UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3822056
hg1922056
hg1822056
hg1722056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617478, nssv619918, nssv622465
SamplesCHM, NA15510, NA18994
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)nsv508229
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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