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dbVar

Database of genomic structural variation

nsv3870704

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:2,086,976

Description:GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1 AND See cases

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: 5035 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):42,448,632-44,535,607

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3870704	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	42,448,632	44,535,607
nsv3870704	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	42,914,303	45,001,279

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15147648	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000446029.3, VCV000395212.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15147648	Remapped	Perfect	NC_000001.11:g.(?_ 42448632)_(4453560 7_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	42,448,632	44,535,607
nssv15147648	Submitted genomic		NC_000001.10:g.(?_ 42914303)_(4500127 9_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	42,914,303	45,001,279

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
nssv15147648	GRCh37: NC_000001.10:g.(?_42914303)_(45001279_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000446029.3, VCV000395212.3	1

No genotype data were submitted for this variant

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