nstd36 (Mitsui et al. 2010)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Jun Mitsui
- Description:
- We performed a custom-designed high-density comparative genomic hybridization analysis to determine the junction sequences in germ cell lines and cancer cell lines involving PARK2 or DMD. See Variant Summary counts for nstd36 in dbVar Variant Summary.
- Publication(s):
- Mitsui et al. 2010
Detailed Information: Download 395 Variant Regions, Download 397 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000006.12 | Chr6 | 192 | 194 | Remapped | NC_000006.12 |
| NC_000023.11 | ChrX | 203 | 203 | Remapped | NC_000023.11 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000006.11 | Chr6 | 192 | 194 | Remapped | NC_000006.11 |
| NC_000023.10 | ChrX | 203 | 203 | Remapped | NC_000023.10 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000006.10 | Chr6 | 192 | 194 | Submitted | NC_000006.10 |
| NC_000023.9 | ChrX | 203 | 203 | Submitted | NC_000023.9 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000006.10 | Chr6 | 192 | 192 | 0 | 0 | 0 | 0 | 194 | 194 | 0 | 0 | 0 | 0 |
| NC_000023.9 | ChrX | 203 | 203 | 0 | 0 | 0 | 0 | 203 | 203 | 0 | 0 | 0 | 0 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| NC_000006.10 | Chr6 | 192 | 192 | 0 | 0 | 0 | 0 | 194 | 194 | 0 | 0 | 0 | 0 |
| NC_000023.9 | ChrX | 203 | 203 | 0 | 0 | 0 | 0 | 203 | 203 | 0 | 0 | 0 | 0 |
Samplesets
Number of Samplesets: 3
- Sampleset ID:
- 1
- Name:
- AR-JP
- Description:
- Genomic DNA samples of patients with autosomal recessive juvenile parkinsonism (AR-JP) [MIM 600116]
- Size:
- 206
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- Parkinsonian Disorders
- Sampleset ID:
- 2
- Name:
- DMD/BMD
- Description:
- Genomic DNA samples of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) [MIM 310200/300376]
- Size:
- 208
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- Muscular Dystrophy, Duchenne
- Sex:
- Male
- Sampleset ID:
- 3
- Name:
- Cancer
- Description:
- Genomic DNA samples of cancer cell lines
- Size:
- 125
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- Neoplasms
Experimental Details
| Experiment ID | Type | Method | Analysis | Platforms | Number of Variant Calls |
|---|---|---|---|---|---|
| 1 | Discovery | Oligo aCGH | Probe signal intensity | Agilent | 0 |
| 2 | Discovery | Sequencing | Sequence alignment | 0 | |
| 3 | Discovery | Merging of experiments 1,2 | Merging of experiments 1,2 | See merged experiments | 397 |