"nstd102"[study] AND "familial"[Clinical Phenotype] AND "hypercholeste - 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
nsv3877119	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr2: 21,224,582-21,258,600 , GRCh38 chr2: 21,001,710-21,035,728	APOB
nsv3889017	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,226,889-11,244,506 , GRCh38.p12 chr19: 11,116,213-11,133,830	LDLR
nsv3882659	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,227,675-11,244,506 , GRCh38.p12 chr19: 11,116,999-11,133,830	LDLR
nsv3888180	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 11,116,074-11,131,359 , GRCh37 chr19: 11,226,750-11,242,035	LDLR
nsv7095465	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,227,515-11,241,992 , GRCh38.p12 chr19: 11,116,839-11,131,316	LDLR
nsv4682406	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 25,870,180-25,883,768 , GRCh38.p12 chr1: 25,543,689-25,557,277	LDLRAP1
nsv3886124	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,231,199-11,244,506 , GRCh38.p12 chr19: 11,120,523-11,133,830	LDLR
nsv3877069	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,226,889-11,240,188 , GRCh38.p12 chr19: 11,116,213-11,129,512	LDLR
nsv3875985	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,205,052-11,217,736 , GRCh38 chr19: 11,094,376-11,107,060	LDLR
nsv3875884	copy number variation	2	nstd102	human	Pathogenic, Conflicting interpretations of pathogenicity	GRCh37 chr19: 11,227,675-11,238,683 , GRCh38.p12 chr19: 11,116,999-11,128,007	LDLR
nsv3874330	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,233,849-11,244,506 , GRCh38.p12 chr19: 11,123,173-11,133,830	LDLR
nsv3887950	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,244,506 , GRCh38.p12 chr19: 11,123,345-11,133,830	LDLR
nsv3879612	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,242,799 , GRCh38.p12 chr19: 11,123,345-11,132,123	LDLR
nsv5673146	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 11,123,590-11,132,124 , GRCh37 chr19: 11,234,266-11,242,800	LDLR
nsv3883586	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,242,212 , GRCh38.p12 chr19: 11,123,345-11,131,536	LDLR
nsv3870882	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 11,234,021-11,241,956 , GRCh38.p12 chr19: 11,123,345-11,131,280	LDLR
nsv3885214	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,230,910-11,238,683 , GRCh38.p12 chr19: 11,120,234-11,128,007	LDLR
nsv3883239	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 11,231,199-11,238,683 , GRCh38.p12 chr19: 11,120,523-11,128,007	LDLR
nsv4452008	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 11,100,203-11,107,534 , GRCh37 chr19: 11,210,879-11,218,210	LDLR
nsv4449920	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr19: 11,100,213-11,107,528 , GRCh37 chr19: 11,210,889-11,218,204	LDLR

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Number of Variants: 20

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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

Search results

Items: 1 to 20 of 273

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Number of Variants: 20

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