A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508828



Internal ID15476326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:20604120..20679078hg38UCSC Ensembl
Outerchr2:20803880..20878838hg19UCSC Ensembl
Outerchr2:20667361..20742319hg18UCSC Ensembl
Outerchr2:20725508..20800466hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383578
hg193578
hg183578
hg173578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619898
SamplesNA10860
Known GenesGDF7, HS1BP3
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)nsv508828
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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