A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510729



Internal ID15826754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77524111..77624574hg38UCSC Ensembl
Outerchr17:75520193..75620656hg19UCSC Ensembl
Outerchr17:73031788..73132251hg18UCSC Ensembl
Outerchr17:73031788..73132251hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38100464
hg19100464
hg18100464
hg17100464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622728
SamplesNA18994
Known GenesLOC100507351
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)nsv510729
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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