A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508571



Internal ID15480247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:17199800..17296900hg38UCSC Ensembl
Outerchr10:17241799..17338899hg19UCSC Ensembl
Outerchr10:17281805..17378905hg18UCSC Ensembl
Outerchr10:17281805..17378905hg17UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg3897101
hg1997101
hg1897101
hg1797101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622463
SamplesNA18994
Known GenesTRDMT1, VIM, VIM-AS1
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)nsv508571
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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