A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv817614



Internal ID16056782
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1415558
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)nsv817614
Frequency
Sample Size6
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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