A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508441



Internal ID15824468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1126002..1174604hg38UCSC Ensembl
Outerchr7:1165638..1214240hg19UCSC Ensembl
Outerchr7:1132164..1180766hg18UCSC Ensembl
Outerchr7:938879..987481hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3848603
hg1948603
hg1848603
hg1748603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622566
SamplesNA18994
Known GenesC7orf50, ZFAND2A
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)nsv508441
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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