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dbVar

Database of genomic structural variation

nsv4676386

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:598,830

Description:GRCh37/hg19 19q13.42(chr19:54474844-55181741)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: 3965 SVs from 112 studies. See in: genome view

Remapped(Score: Pass):54,071,461-54,670,290

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4676386	Remapped	Pass	GRCh38.p12	Primary Assembly	Second Pass	NC_000019.10	Chr19	54,071,461	54,670,290
nsv4676386	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	134,805	652,855
nsv4676386	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_8	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	1	396,794
nsv4676386	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	1	575,172
nsv4676386	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	1	394,095
nsv4676386	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	1	576,693
nsv4676386	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,474,844	55,181,741

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207404	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001007058.1, VCV000816092.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207404	Remapped	Pass	NT_187693.1:g.(?_1 34805)_(652855_?)d up	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	134,805	652,855
nssv16207404	Remapped	Pass	NW_003571061.2:g.( ?_1)_(396794_?)dup	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	1	396,794
nssv16207404	Remapped	Pass	NW_003571060.1:g.( ?_1)_(575172_?)dup	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	1	575,172
nssv16207404	Remapped	Pass	NW_003571055.2:g.( ?_1)_(394095_?)dup	GRCh38.p12	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	1	394,095
nssv16207404	Remapped	Pass	NW_003571054.1:g.( ?_1)_(576693_?)dup	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	1	576,693
nssv16207404	Remapped	Pass	NC_000019.10:g.(?_ 54071461)_(5467029 0_?)dup	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,071,461	54,670,290
nssv16207404	Submitted genomic		NC_000019.9:g.(?_5 4474844)_(55181741 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	54,474,844	55,181,741

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
nssv16207404	GRCh37: NC_000019.9:g.(?_54474844)_(55181741_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001007058.1, VCV000816092.1	3

No genotype data were submitted for this variant

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