ssh1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 14

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Number of Variants: 14

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6291583	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 104,230,462-111,984,801 , GRCh38.p12 chr12: 103,836,684-111,546,997	SSH1, LOC105369964, 147 more genes
nsv3916234	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 104,152,585-111,116,873 , GRCh37 chr12: 105,628,455-112,632,490 , GRCh38 chr12: 105,234,677-112,194,686	SSH1, LOC100287944, 141 more genes
nsv4728881	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102	SSH1, ATP2A2, 115 more genes
nsv3904242	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309	SSH1, RNA5SP369, 2454 more genes
nsv3905447	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316	SSH1, LOH12CR2, 2452 more genes
nsv3897722	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059	SSH1, RNU4ATAC16P, 2452 more genes
nsv3914194	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807	SSH1, BTG1P1, 2451 more genes
nsv3904719	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532	SSH1, OR5BT1P, 2441 more genes
nsv3924338	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr12: 89,962,226-108,055,398 , GRCh38 chr12: 91,044,318-109,133,210 , GRCh37 chr12: 91,438,095-109,571,015	SSH1, NUP37, 295 more genes
nsv3893927	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr12: 103,044,333-111,639,805 , GRCh38.p12 chr12: 102,650,555-111,202,001	SSH1, ACACB, 150 more genes
nsv3897473	copy number variation	1	nstd102	human	Likely benign	GRCh37 chr12: 109,190,922-109,989,416 , GRCh38.p12 chr12: 108,797,146-109,551,611	SSH1, MYO1H, 17 more genes
nsv3919676	copy number variation	1	nstd102	human	Uncertain significance	NCBI36 chr12: 104,562,875-107,917,026 , GRCh37 chr12: 106,038,745-109,432,645 , GRCh38 chr12: 105,644,967-108,994,840	SSH1, SELPLG, 54 more genes
nsv4769383	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 107,197,584-109,830,564 , GRCh38.p12 chr12: 106,803,806-109,392,759	SSH1, TMEM263, 50 more genes
nsv4675412	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr12: 109,199,902-110,267,493 , GRCh38.p12 chr12: 108,806,126-109,829,688	SSH1, FAM222A-AS1, 24 more genes

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