"nstd102"[study] AND "not provided"[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
nsv3875336	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 142,513,049-147,499,105 , GRCh37 chr1: 143,721,526-149,232,481 , GRCh38.p12 chr7: 58,093,723-62,429,627	LOC101060796
nsv3921333	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr7: 68,768,173-69,374,770 , GRCh38 chr7: 69,665,251-70,271,848 , GRCh37 chr7: 69,130,237-69,736,834	AUTS2
nsv3897330	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chrX: 31,540,244-32,059,446 , GRCh37 chrX: 31,558,361-32,077,563 , NCBI36 chrX: 31,468,282-31,987,484	DMD
nsv3897255	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 29,147,023-29,533,186 , GRCh38 chrX: 29,128,906-29,515,069 , NCBI36 chrX: 29,056,944-29,443,107	IL1RAPL1
nsv3904547	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 23,899,592-24,266,672 , GRCh38.p12 chr12: 23,746,658-24,113,738	SOX5
nsv3872415	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 517,225-839,488 , GRCh38.p12 chrX: 556,490-878,753	SHOX
nsv3903514	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chrX: 465,953-765,273 , GRCh38 chrX: 585,218-884,538 , GRCh37 chrX: 545,953-803,877	SHOX
nsv3883853	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 50,964,034-51,227,294 , GRCh38.p12 chr2: 50,736,896-51,000,156	NRXN1
nsv3876341	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 31,637,969-31,894,898 , GRCh38.p12 chrX: 31,619,852-31,876,781	DMD
nsv3910578	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr6: 72,611,926-72,864,616 , GRCh38 chr6: 71,845,502-72,098,192 , GRCh37 chr6: 72,555,205-72,807,895	RIMS1
nsv3911706	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr7: 146,071,123-146,294,233 , GRCh38 chr7: 146,743,098-146,966,208 , GRCh37 chr7: 146,440,190-146,663,300	CNTNAP2
nsv3911233	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr7: 68,931,633-69,141,367 , GRCh37 chr7: 69,293,697-69,503,431 , GRCh38 chr7: 69,828,711-70,038,445	AUTS2
nsv3870731	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 32,349,168-32,534,563 , GRCh38.p12 chrX: 32,331,051-32,516,446	DMD
nsv3901338	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 51,088,055-51,257,067 , NCBI36 chr2: 50,941,559-51,110,571 , GRCh38 chr2: 50,860,917-51,029,929	NRXN1
nsv3923120	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr16: 6,009,601-6,171,462 , GRCh38 chr16: 5,959,600-6,121,461 , NCBI36 chr16: 5,949,602-6,111,463	RBFOX1
nsv3923929	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr7: 69,765,424-69,912,439 , NCBI36 chr7: 69,403,360-69,550,375 , GRCh38 chr7: 70,300,438-70,447,453	AUTS2
nsv3892474	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 31,713,409-31,858,935 , GRCh38 chrX: 31,695,292-31,840,818 , NCBI36 chrX: 31,623,330-31,768,856	DMD
nsv3877424	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 31,951,570-32,096,169 , GRCh38.p12 chrX: 31,933,453-32,078,052	DMD
nsv3874447	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 51,113,043-51,257,100 , GRCh38.p12 chr2: 50,885,905-51,029,962	NRXN1
nsv3919307	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr10: 55,714,219-55,857,931 , NCBI36 chr10: 55,384,225-55,527,937 , GRCh38 chr10: 53,954,459-54,098,171	PCDH15

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Result Filters

Object Type

Organism

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Has Clinical Interpretation

Sex of Subject

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Items: 1 to 20 of 17556

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Number of Variants: 20

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