A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510966



Internal ID15478460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99977397..100100200hg38UCSC Ensembl
Outerchr7:99575020..99697823hg19UCSC Ensembl
Outerchr7:99412956..99535759hg18UCSC Ensembl
Outerchr7:99219671..99342474hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38122804
hg19122804
hg18122804
hg17122804
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621600
SamplesNA15510
Known GenesAZGP1P1, COPS6, MCM7, MIR106B, MIR25, MIR93, ZKSCAN1, ZNF3, ZSCAN21
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)nsv510966
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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