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dbVar

Database of genomic structural variation

nsv4730034

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,091,731

Description:GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 AND not provided

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 11848 SVs from 121 studies. See in: genome view

Remapped(Score: Good):53,830,941-55,922,671

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4730034	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,830,941	55,922,671
nsv4730034	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_9	Second Pass	NT_187693.1	Chr19\|NT_1 87693.1	1	1,066,800
nsv4730034	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NW_003571057.2	Chr19\|NW_0 03571057.2	1	1,091,841
nsv4730034	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NW_003571058.2	Chr19\|NW_0 03571058.2	1	1,066,390
nsv4730034	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NW_003571056.2	Chr19\|NW_0 03571056.2	1	1,064,304
nsv4730034	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,334,195	56,434,037

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255653	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001259948.1, VCV000980772.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255653	Remapped	Pass	NT_187693.1:g.(?_1 )_(1066800_?)dup	GRCh38.p12	Second Pass	NT_187693.1	Chr19\|NT_1 87693.1	1	1,066,800
nssv16255653	Remapped	Pass	NW_003571058.2:g.( ?_1)_(1066390_?)du p	GRCh38.p12	Second Pass	NW_003571058.2	Chr19\|NW_0 03571058.2	1	1,066,390
nssv16255653	Remapped	Pass	NW_003571057.2:g.( ?_1)_(1091841_?)du p	GRCh38.p12	Second Pass	NW_003571057.2	Chr19\|NW_0 03571057.2	1	1,091,841
nssv16255653	Remapped	Pass	NW_003571056.2:g.( ?_1)_(1064304_?)du p	GRCh38.p12	Second Pass	NW_003571056.2	Chr19\|NW_0 03571056.2	1	1,064,304
nssv16255653	Remapped	Good	NC_000019.10:g.(?_ 53830941)_(5592267 1_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,830,941	55,922,671
nssv16255653	Submitted genomic		NC_000019.9:g.(?_5 4334195)_(56434037 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	54,334,195	56,434,037

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255653	GRCh37: NC_000019.9:g.(?_54334195)_(56434037_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001259948.1, VCV000980772.1	3

No genotype data were submitted for this variant

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