A curated catalogue of human genomic structural variation
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Variant Details
Variant: nsv560486
Internal ID
16001209
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr12:121747659..121748165
hg38
UCSC
Ensembl
Inner
chr12:122185565..122186071
hg19
UCSC
Ensembl
Inner
chr12:120669948..120670454
hg18
UCSC
Ensembl
Cytoband
12q24.31
Allele length
Assembly
Allele length
hg38
507
hg19
507
hg18
507
Variant Type
CNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
dgv2924n54
Supporting Variants
nssv803642
,
nssv803640
,
nssv803637
,
nssv803639
,
nssv803641
,
nssv803638
,
nssv803636
,
nssv803643
,
nssv803644
,
nssv803635
Samples
Known Genes
TMEM120B
Method
SNP array
Analysis
Illumina SNP array copy number analysis
Platform
Not reported
Comments
Reference
Cooper_et_al_2011
Pubmed ID
21841781
Accession Number(s)
nsv560486
Frequency
Sample Size
17421
Observed Gain
0
Observed Loss
10
Observed Complex
0
Frequency
n/a
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