"nstd102"[study] AND "early"[Clinical Phenotype] AND "infantile"[Clini - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6310620	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 13,427,906-13,617,038 , GRCh38.p12 chr19: 13,317,092-13,506,224	CACNA1A
nsv4451638	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 99,551,255-99,663,615 , GRCh38 chrX: 100,296,257-100,408,617	PCDH19
nsv3882710	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chrX: 18,443,725-18,528,974 , GRCh38 chrX: 18,425,605-18,510,854	CDKL5
nsv4769253	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 18,419,574-18,504,791 , GRCh37.p13 chrX: 18,437,694-18,522,911	CDKL5
nsv5674121	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 99,596,891-99,663,595 , GRCh38.p12 chrX: 100,341,893-100,408,597	PCDH19
nsv3887105	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 78,099,413-78,164,289 , GRCh37 chr16: 78,133,327-78,198,186	WWOX
nsv6312977	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 18,582,577-18,646,727 , GRCh38.p12 chrX: 18,564,457-18,628,607	CDKL5
nsv6311153	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr20: 8,639,165-8,698,515 , GRCh38.p12 chr20: 8,658,518-8,717,868	PLCB1
nsv6313390	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 99,551,275-99,605,722 , GRCh38.p12 chrX: 100,296,277-100,350,724	PCDH19
nsv4349485	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 129,414,011-129,460,757 , GRCh38.p12 chr9: 126,651,732-126,698,478	LMX1B
nsv5673005	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 78,420,747-78,466,659 , GRCh38.p12 chr16: 78,386,850-78,432,762	WWOX
nsv6312682	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,374,683-130,416,095 , GRCh38.p12 chr9: 127,612,404-127,653,816	STXBP1
nsv5673004	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 78,420,747-78,458,962 , GRCh38.p12 chr16: 78,386,850-78,425,065	WWOX
nsv4716480	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 78,152,047-78,188,346 , GRCh37.p13 chr16: 78,185,944-78,222,243	WWOX
nsv7093261	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 78,375,608-78,407,230 , GRCh37.p13 chr16: 78,409,505-78,441,127	WWOX
nsv6312673	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 111,899,735-111,929,571 , GRCh38.p12 chr9: 109,137,455-109,167,291	FRRS1L
nsv6311991	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 50,513,539-50,540,854 , GRCh38.p12 chr3: 50,476,108-50,503,423	CACNA2D2
nsv3871258	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 52,056,582-52,082,653 , GRCh38 chr12: 51,662,798-51,688,869	SCN8A
nsv3877026	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 165,365,123-165,389,844 , GRCh37 chr2: 166,221,633-166,246,354	SCN2A
nsv4682388	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr9: 130,415,974-130,439,052 , GRCh38.p12 chr9: 127,653,695-127,676,773	STXBP1

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Number of Variants: 20

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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

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Items: 1 to 20 of 445

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Number of Variants: 20

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