A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509231



Internal ID15825257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157805512..157908763hg38UCSC Ensembl
Outerchr7:157598204..157701455hg19UCSC Ensembl
Outerchr7:157290965..157394216hg18UCSC Ensembl
Outerchr7:157097680..157200931hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg387863
hg197863
hg187863
hg177863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619507
SamplesNA10860
Known GenesLOC100506585, PTPRN2
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)nsv509231
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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