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dbVar

Database of genomic structural variation

nsv4729999

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:252,590

Description:GRCh37/hg19 19q13.42(chr19:54659105-54916280)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: 2395 SVs from 108 studies. See in: genome view

Remapped(Score: Good):54,155,367-54,404,676

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4729999	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000019.10	Chr19	54,155,367	54,404,676
nsv4729999	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	134,805	387,394
nsv4729999	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_8	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	130,218	361,078
nsv4729999	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	130,218	309,667
nsv4729999	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	134,805	385,761
nsv4729999	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	130,217	309,793
nsv4729999	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,659,105	54,916,280

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16254557	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001259947.1, VCV000980771.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16254557	Remapped	Good	NT_187693.1:g.(?_1 34805)_(387394_?)d up	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	134,805	387,394
nssv16254557	Remapped	Pass	NW_003571061.2:g.( ?_130218)_(361078_ ?)dup	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	130,218	361,078
nssv16254557	Remapped	Pass	NW_003571060.1:g.( ?_130218)_(309667_ ?)dup	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	130,218	309,667
nssv16254557	Remapped	Good	NW_003571055.2:g.( ?_134805)_(385761_ ?)dup	GRCh38.p12	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	134,805	385,761
nssv16254557	Remapped	Pass	NW_003571054.1:g.( ?_130217)_(309793_ ?)dup	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	130,217	309,793
nssv16254557	Remapped	Good	NC_000019.10:g.(?_ 54155367)_(5440467 6_?)dup	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,155,367	54,404,676
nssv16254557	Submitted genomic		NC_000019.9:g.(?_5 4659105)_(54916280 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	54,659,105	54,916,280

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
nssv16254557	GRCh37: NC_000019.9:g.(?_54659105)_(54916280_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001259947.1, VCV000980771.1	3

No genotype data were submitted for this variant

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