H Sklenar - 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
nsv5673780	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 80,816,391-81,053,541 , GRCh38.p12 chr6: 80,106,674-80,343,824	BCKDHB
nsv7097594	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 80,816,411-81,053,521 , GRCh38.p12 chr6: 80,106,694-80,343,804	BCKDHB
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
nsv3881933	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 70,992,485-71,180,270 , GRCh37 chr3: 71,041,636-71,229,421	FOXP1
nsv3882018	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr5: 179,158,880-179,343,766 , GRCh37 chr5: 178,585,881-178,770,767	ADAMTS2
nsv7097095	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 80,880,989-81,055,997 , GRCh38.p12 chr6: 80,171,272-80,346,280	BCKDHB
nsv7095408	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 59,760,657-59,934,602 , GRCh38.p12 chr17: 61,683,296-61,857,241	BRIP1
nsv5673137	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 59,770,781-59,938,900 , GRCh38.p12 chr17: 61,693,420-61,861,539	BRIP1
nsv7097338	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 51,586,774-51,752,053 , GRCh38.p12 chr6: 51,721,976-51,887,255	PKHD1
nsv4681130	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr11: 44,117,783-44,265,938 , GRCh38.p12 chr11: 44,096,233-44,244,388	EXT2
nsv3877660	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 13,359,800-13,505,931 , GRCh37.p13 chr19: 13,470,614-13,616,745	CACNA1A
nsv7097458	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr6: 80,837,244-80,982,958 , GRCh38.p12 chr6: 80,127,527-80,273,241	BCKDHB
nsv6309731	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 48,782,167-48,927,084 , GRCh38.p12 chr15: 48,489,970-48,634,887	FBN1
nsv3878384	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr15: 48,410,970-48,537,828 , GRCh37 chr15: 48,703,167-48,830,025	FBN1
nsv6309793	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 48,703,177-48,830,015 , GRCh38.p12 chr15: 48,410,980-48,537,818	FBN1
nsv7098342	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chrX: 132,670,152-132,795,898 , GRCh38.p12 chrX: 133,536,124-133,661,870	GPC3
nsv7096352	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr22: 33,559,508-33,673,261 , GRCh38.p12 chr22: 33,163,522-33,277,275	LARGE1
nsv4682041	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 73,716,751-73,830,441 , GRCh38.p12 chr2: 73,489,624-73,603,314	ALMS1
nsv6310397	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr17: 59,760,657-59,871,100 , GRCh38.p12 chr17: 61,683,296-61,793,739	BRIP1
nsv4682035	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr15: 48,795,974-48,905,299 , GRCh38.p12 chr15: 48,503,777-48,613,102	FBN1

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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

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Items: 1 to 20 of 1065602

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Number of Variants: 20

Page of 53281

Supplemental Content

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