A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622785



Internal ID15474672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201380850..201457524hg38UCSC Ensembl
Outerchr1:201349978..201426652hg19UCSC Ensembl
Outerchr1:199616601..199693275hg18UCSC Ensembl
Outerchr1:198081635..198158309hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3876675
hg1976675
hg1876675
hg1776675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508687
Supporting Variants
SamplesNA18994
Known GenesLAD1, TNNI1
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)nssv622785
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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