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dbVar

Database of genomic structural variation

nsv4452902

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:215,776

Description:GRCh37/hg19 1p36.22(chr1:11278039-11493814)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: 699 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):11,217,982-11,433,757

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4452902	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	11,217,982	11,433,757
nsv4452902	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	11,278,039	11,493,814

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773157	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000849058.2, VCV000688367.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773157	Remapped	Perfect	NC_000001.11:g.(?_ 11217982)_(1143375 7_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	11,217,982	11,433,757
nssv15773157	Submitted genomic		NC_000001.10:g.(?_ 11278039)_(1149381 4_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	11,278,039	11,493,814

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
nssv15773157	GRCh37: NC_000001.10:g.(?_11278039)_(11493814_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000849058.2, VCV000688367.2	3

No genotype data were submitted for this variant

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