A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619365



Internal ID15817946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2246239..2324327hg38UCSC Ensembl
Outerchr4:2247966..2326054hg19UCSC Ensembl
Outerchr4:2217764..2295852hg18UCSC Ensembl
Outerchr4:2215197..2293285hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384492
hg194492
hg184492
hg174492
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508990
Supporting Variants
SamplesNA10860
Known GenesMIR4800, MXD4, ZFYVE28
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)nssv619365
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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