A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509648



Internal ID15477146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5037226..5091452hg38UCSC Ensembl
Outerchr17:4940521..4994747hg19UCSC Ensembl
Outerchr17:4881245..4935471hg18UCSC Ensembl
Outerchr17:4881245..4935471hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg384592
hg194592
hg184592
hg174592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623709, nssv619708
SamplesNA18994, NA10860
Known GenesZFP3
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)nsv509648
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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