A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508447



Internal ID15824474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16320989..16406428hg38UCSC Ensembl
Outerchr7:16360614..16446053hg19UCSC Ensembl
Outerchr7:16327139..16412578hg18UCSC Ensembl
Outerchr7:16133854..16219293hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3885440
hg1985440
hg1885440
hg1785440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618806
SamplesNA10860
Known GenesISPD
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)nsv508447
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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