M Schaefer - dbVar

loading data ...

Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3887152	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr8: 60,741,413-60,865,953 , GRCh37 chr8: 61,653,972-61,778,512	CHD7
nsv3874536	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,098,645-2,131,595 , GRCh38 chr16: 2,048,644-2,081,594	TSC2
nsv4451832	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 132,896,215-132,928,892 , GRCh37 chr9: 135,771,602-135,804,279	TSC1
nsv3872348	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr9: 132,896,229-132,928,878 , GRCh37 chr9: 135,771,616-135,804,265	TSC1
nsv3871090	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,098,597-2,130,398 , GRCh38.p12 chr16: 2,048,596-2,080,397	TSC2
nsv4452153	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,098,597-2,124,416 , GRCh38 chr16: 2,048,596-2,074,415	TSC2
nsv4682244	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 135,775,735-135,797,380 , GRCh38.p12 chr9: 132,900,348-132,921,993	TSC1
nsv7094818	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,105,383-2,124,410 , GRCh38.p12 chr16: 2,055,382-2,074,409	TSC2
nsv4683975	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 135,785,938-135,804,279 , GRCh38.p12 chr9: 132,910,551-132,928,892	TSC1
nsv3870614	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,106,177-2,124,416 , GRCh38 chr16: 2,056,176-2,074,415	TSC2
nsv6315011	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 2,056,989-2,074,645 , GRCh37.p13 chr16: 2,106,990-2,124,646	TSC2
nsv3870902	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 2,048,587-2,065,635 , GRCh37 chr16: 2,098,588-2,115,636	TSC2
nsv5673820	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 135,782,098-135,796,843 , GRCh38.p12 chr9: 132,906,711-132,921,456	TSC1
nsv6309852	copy number variation	2	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr16: 2,103,323-2,115,656 , GRCh38.p12 chr16: 2,053,322-2,065,655	TSC2
nsv7094660	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,108,728-2,120,599 , GRCh38.p12 chr16: 2,058,727-2,070,598	TSC2
nsv7097934	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 135,771,184-135,781,738 , GRCh38.p12 chr9: 132,895,797-132,906,351	TSC1
nsv5673072	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,098,597-2,108,894 , GRCh38.p12 chr16: 2,048,596-2,058,893	TSC2
nsv4450886	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 2,056,176-2,064,447 , GRCh37 chr16: 2,106,177-2,114,448	TSC2
nsv3878833	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 135,771,602-135,779,861 , GRCh38 chr9: 132,896,215-132,904,474	TSC1
nsv7094571	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 2,127,477-2,135,343 , GRCh38.p12 chr16: 2,077,476-2,085,342	TSC2

dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Send to:

Search results

Items: 1 to 20 of 461

Number of Variants: 20

Send to:

Supplemental Content

Find related data

Search details

Recent activity

dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 461

Page of 24

Number of Variants: 20

Page of 24

Supplemental Content

Find related data

Search details

Recent activity