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dbVar

Database of genomic structural variation

nsv3880942

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:724,065

Description:NC_000003.11:g.(?_186256465)_(186980528_?)del AND 3MC syndrome 1

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: 2348 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):186,538,676-187,262,740

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3880942	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	186,538,676	187,262,740
nsv3880942	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	186,256,465	186,980,528

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129401	deletion	Multiple	Multiple	3MC SYNDROME 1; 3MC1; 3MC syndrome; 3MC syndrome 1	Pathogenic	ClinVar	RCV000638455.4, VCV000531899.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15129401	Remapped	Perfect	NC_000003.12:g.(?_ 186538676)_(187262 740_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	186,538,676	187,262,740
nssv15129401	Submitted genomic		NC_000003.11:g.(?_ 186256465)_(186980 528_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	186,256,465	186,980,528

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
nssv15129401	GRCh37: NC_000003.11:g.(?_186256465)_(186980528_?)del	deletion	germline	3MC SYNDROME 1; 3MC1; 3MC syndrome; 3MC syndrome 1	Pathogenic	ClinVar	RCV000638455.4, VCV000531899.4

No genotype data were submitted for this variant

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