A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623774



Internal ID15475661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16909817..17011115hg38UCSC Ensembl
Outerchr1:17236312..17337610hg19UCSC Ensembl
Outerchr1:17108899..17210197hg18UCSC Ensembl
Outerchr1:16981618..17082916hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384067
hg194067
hg184067
hg174067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508947
Supporting Variants
SamplesNA18994
Known GenesATP13A2, CROCC, MFAP2
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)nssv623774
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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