A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415558



Internal ID16056770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54604313..55692280hg38UCSC Ensembl
Outerchr1:54580862..55735351hg38UCSC Ensembl
Innerchr1:55069986..56157953hg19UCSC Ensembl
Outerchr1:55046535..56201024hg19UCSC Ensembl
Innerchr1:54842574..55930541hg18UCSC Ensembl
Outerchr1:54819123..55973612hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381154490
hg191154490
hg181154490
Variant TypeCNV gain
Copy Number
Allele State
Allele Originde novo
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817614
Supporting Variants
Samples102
Known GenesACOT11, BSND, C1orf177, DHCR24, FAM151A, LOC100507634, MIR4422, MROH7, MROH7-TTC4, PARS2, PCSK9, TMEM61, TTC22, TTC4, USP24
MethodSNP array
Analysis
PlatformIllumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B)
Comments
ReferenceForsberg_et_al_2012
Pubmed ID22305530
Accession Number(s)nssv1415558
Frequency
Sample Size6
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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