A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508885



Internal ID6099532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220095947..220198324hg19UCSC Ensembl
Outerchr2:219804191..219906568hg18UCSC Ensembl
Outerchr2:219921452..220023829hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg194819
hg184819
hg174819
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv619300
SamplesNA10860
Known GenesANKZF1, DNAJB2, GLB1L, MIR153-1, PTPRN, RESP18, STK16, TUBA4A, TUBA4B
Method
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)nsv508885
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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