A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509502



Internal ID15477000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154904407..155142291hg38UCSC Ensembl
Outerchr1:154876883..155114767hg19UCSC Ensembl
Outerchr1:153143507..153381391hg18UCSC Ensembl
Outerchr1:151689956..151927840hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385206
hg195206
hg185206
hg175206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623798, nssv619815, nssv623796
SamplesNA18994, NA10860
Known GenesADAM15, CKS1B, DCST1, DCST2, DPM3, EFNA1, EFNA3, EFNA4, FLAD1, LENEP, LOC100505666, MIR4258, PBXIP1, PMVK, PYGO2, SHC1, SLC50A1, ZBTB7B
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)nsv509502
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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