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dbVar

Database of genomic structural variation

nsv3913233

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:966,560

Description:NCBI36/hg18 2q37.1(chr2:232702663-233599457)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: 3107 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):232,085,784-233,052,343

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
nsv3913233	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	232,085,784	232,129,709	233,026,503	233,052,343
nsv3913233	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	232,950,494	232,994,419	233,891,213	233,917,053
nsv3913233	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	232,658,738	232,702,663	233,599,457	233,625,297

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126635	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452227.2, VCV000401938.2	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
nssv15126635	Remapped	Perfect	NC_000002.12:g.(23 2085784_232129709) _(233026503_233052 343)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	232,085,784	232,129,709	233,026,503	233,052,343
nssv15126635	Remapped	Perfect	NC_000002.11:g.(23 2950494_232994419) _(233891213_233917 053)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	232,950,494	232,994,419	233,891,213	233,917,053
nssv15126635	Submitted genomic		NC_000002.10:g.(23 2658738_232702663) _(233599457_233625 297)dup	NCBI36 (hg18)		NC_000002.10	Chr2	232,658,738	232,702,663	233,599,457	233,625,297

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
nssv15126635	NCBI36: NC_000002.10:g.(232658738_232702663)_(233599457_233625297)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452227.2, VCV000401938.2	3

No genotype data were submitted for this variant

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