A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618771



Internal ID15471889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13673697..13777350hg38UCSC Ensembl
Outerchr10:13715697..13819350hg19UCSC Ensembl
Outerchr10:13755703..13859356hg18UCSC Ensembl
Outerchr10:13755703..13859356hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38103654
hg19103654
hg18103654
hg17103654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508569
Supporting Variants
SamplesNA10860
Known GenesFRMD4A
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)nssv618771
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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