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dbVar

Database of genomic structural variation

nsv3912394

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:480,141

Description:NCBI36/hg18 19q13.2(chr19:44078654-44510466)x3 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: 2010 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):38,872,029-39,352,169

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3912394	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	38,872,029	38,896,174	39,327,986	39,352,169
nsv3912394	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	39,362,669	39,386,814	39,818,626	39,842,809
nsv3912394	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000019.8	Chr19	44,054,509	44,078,654	44,510,466	44,534,649

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125982	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450742.2, VCV000401015.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125982	Remapped	Perfect	NC_000019.10:g.(38 872029_38896174)_( 39327986_39352169) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	38,872,029	38,896,174	39,327,986	39,352,169
nssv15125982	Remapped	Perfect	NC_000019.9:g.(393 62669_39386814)_(3 9818626_39842809)d up	GRCh37.p13	First Pass	NC_000019.9	Chr19	39,362,669	39,386,814	39,818,626	39,842,809
nssv15125982	Submitted genomic		NC_000019.8:g.(440 54509_44078654)_(4 4510466_44534649)d up	NCBI36 (hg18)		NC_000019.8	Chr19	44,054,509	44,078,654	44,510,466	44,534,649

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
nssv15125982	NCBI36: NC_000019.8:g.(44054509_44078654)_(44510466_44534649)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450742.2, VCV000401015.2	3

No genotype data were submitted for this variant

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