A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515496



Internal ID15443107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227724773..227780237hg38UCSC Ensembl
Innerchr1:227912474..227967938hg19UCSC Ensembl
Innerchr1:225979097..226034561hg18UCSC Ensembl
Innerchr1:224219209..224274673hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3855465
hg1955465
hg1855465
hg1755465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663718, nssv653322, nssv657798, nssv664423, nssv672343, nssv692887, nssv670947, nssv669589, nssv682125, nssv655111, nssv688321, nssv674739, nssv658371, nssv660970, nssv675688, nssv678134, nssv685630, nssv657033, nssv656192, nssv655930, nssv661954, nssv683178, nssv656035, nssv706069, nssv687627, nssv691322, nssv691302
Samples
Known GenesJMJD4, LOC100130093, SNAP47
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515496
Frequency
Sample Size2026
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer