A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619035



Internal ID15818839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88811458..88850029hg38UCSC Ensembl
Outerchr2:89110972..89149542hg19UCSC Ensembl
Outerchr2:88892087..88930657hg18UCSC Ensembl
Outerchr2:88950234..88988804hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3838572
hg1938571
hg1838571
hg1738571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508153
Supporting Variants
SamplesNA10860
Known GenesMIR4436A
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)nssv619035
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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