A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508674



Internal ID15480350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54446126..54522212hg38UCSC Ensembl
Outerchr12:54839910..54915996hg19UCSC Ensembl
Outerchr12:53126177..53202263hg18UCSC Ensembl
Outerchr12:53126177..53202263hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3876087
hg1976087
hg1876087
hg1776087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618894
SamplesNA10860
Known GenesGTSF1, NCKAP1L
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)nsv508674
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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