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dbVar

Database of genomic structural variation

nsv4457468

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:282,005

Description:GRCh37/hg19 19q13.31(chr19:43818072-44100076)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: 1373 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):43,313,920-43,595,924

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457468	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	43,313,920	43,595,924
nsv4457468	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	43,818,072	44,100,076

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15772872	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000848508.2, VCV000687817.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15772872	Remapped	Perfect	NC_000019.10:g.(?_ 43313920)_(4359592 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	43,313,920	43,595,924
nssv15772872	Submitted genomic		NC_000019.9:g.(?_4 3818072)_(44100076 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	43,818,072	44,100,076

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
nssv15772872	GRCh37: NC_000019.9:g.(?_43818072)_(44100076_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000848508.2, VCV000687817.2	3

No genotype data were submitted for this variant

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