"nstd102"[study] AND "de novo"[Origin] - 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
nsv3895914	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr2: 50,754,975-50,999,091 , NCBI36 chr2: 50,835,617-51,079,733 , GRCh37 chr2: 50,982,113-51,226,229	NRXN1
nsv3895194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chrX: 31,574,024-31,702,023 , GRCh37 chrX: 31,664,103-31,792,102 , GRCh38 chrX: 31,645,986-31,773,985	DMD
nsv6137852	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 3,727,580-3,851,110 , GRCh37.p13 chr16: 3,777,581-3,901,111	CREBBP
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
nsv3873947	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 18,425,605-18,507,160 , GRCh37 chrX: 18,443,725-18,525,280	CDKL5
nsv6289953	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr21: 37,347,863-37,423,682 , GRCh37 chr21: 38,720,165-38,795,984	DYRK1A
nsv7148168	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr6: 157,036,218-157,111,403 , GRCh37.p13 chr6: 157,357,352-157,432,537	ARID1B
nsv7148177	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 41,786,713-41,853,325 , GRCh37.p13 chrX: 41,645,966-41,712,578	CASK
nsv3880254	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 18,425,605-18,478,967 , GRCh37 chrX: 18,443,725-18,497,087	CDKL5
nsv4578618	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 23,718,347-23,769,414 , GRCh38.p12 chr12: 23,565,413-23,616,480	SOX5
nsv4685980	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr13: 102,521,075-102,568,995 , GRCh38.p12 chr13: 101,868,725-101,916,645	FGF14
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
nsv4578604	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 23,685,093-23,728,869 , GRCh38.p12 chr12: 23,532,159-23,575,935	SOX5
nsv3872420	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 70,297-39,353,364 , GRCh38 chrX: 619,344-661,411 , GRCh38 chrY: 619,344-661,411	SHOX
nsv7148212	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr16: 3,818,098-3,858,843 , GRCh37.p13 chr16: 3,868,099-3,908,844	CREBBP
nsv3871867	copy number variation	3	nstd102	human	Pathogenic, Likely pathogenic	GRCh38 chr1: 39,428,731-39,468,327 , GRCh37 chr1: 39,894,403-39,933,999	MACF1
nsv1398103	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr22: 38,013,680-38,051,826 , GRCh37 chr22: 38,409,687-38,447,833	POLR2F
nsv1398055	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 29,551,122-29,589,206 , GRCh38 chr17: 31,224,104-31,262,188	NF1
nsv5381794	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 3,784,414-3,821,324 , GRCh38.p12 chr16: 3,734,413-3,771,323	CREBBP
nsv3920665	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr12: 116,019,418-116,054,358 , NCBI36 chr12: 114,941,606-114,976,546 , GRCh37 chr12: 116,457,223-116,492,163	MED13L

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Organism

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Has Clinical Interpretation

Sex of Subject

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Items: 1 to 20 of 1949

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Number of Variants: 20

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