A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508700



Internal ID15480376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27556643..27653685hg38UCSC Ensembl
Outerchr1:27883154..27980196hg19UCSC Ensembl
Outerchr1:27755741..27852783hg18UCSC Ensembl
Outerchr1:27567296..27664338hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3897043
hg1997043
hg1897043
hg1797043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620127
SamplesNA15510
Known GenesAHDC1, FGR
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)nsv508700
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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