A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509644



Internal ID15477142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1025673..1214403hg38UCSC Ensembl
Outerchr17:928913..1117697hg19UCSC Ensembl
Outerchr17:875663..1064447hg18UCSC Ensembl
Outerchr17:875663..1064447hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3810287
hg1910287
hg1810287
hg1710287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619705
SamplesNA10860
Known GenesABR
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)nsv509644
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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