A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509209



Internal ID15825235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75569232..75643476hg38UCSC Ensembl
Outerchr7:75198536..75272794hg19UCSC Ensembl
Outerchr7:75036472..75110730hg18UCSC Ensembl
Outerchr7:74843187..74917445hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383401
hg193401
hg183401
hg173401
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619490
SamplesNA10860
Known GenesHIP1
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)nsv509209
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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