A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508149



Internal ID15479825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35187187..35285669hg38UCSC Ensembl
Outerchr1:35652788..35751270hg19UCSC Ensembl
Outerchr1:35425375..35523857hg18UCSC Ensembl
Outerchr1:35321881..35420363hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3898483
hg1998483
hg1898483
hg1798483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618971
SamplesNA10860
Known GenesSFPQ, ZMYM4
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)nsv508149
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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