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dbVar

Database of genomic structural variation

nsv4378453

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:20,807

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

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: 792 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):18,919,650-18,940,456

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4378453	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nsv4378453	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	18,941,197	18,962,003

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15621984	copy number loss	1-1002-003	SNP array	Genotyping	26
nssv15628491	copy number loss	1-0551-002	SNP array	Genotyping	21
nssv15645533	copy number gain	2-0299-005	SNP array	Genotyping	26
nssv15649273	copy number gain	2-1292-001	SNP array	Genotyping	22
nssv15650858	copy number gain	2-1408-002	SNP array	Genotyping	22
nssv15651329	copy number loss	2-1371-002	SNP array	Genotyping	18
nssv15697635	copy number loss	170510	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15621984	Remapped	Perfect	NC_000011.10:g.(?_ 18919650)_(1894045 6_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nssv15628491	Remapped	Perfect	NC_000011.10:g.(?_ 18919650)_(1894045 6_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nssv15645533	Remapped	Perfect	NC_000011.10:g.(?_ 18919650)_(1894045 6_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nssv15649273	Remapped	Perfect	NC_000011.10:g.(?_ 18919650)_(1894045 6_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nssv15650858	Remapped	Perfect	NC_000011.10:g.(?_ 18919650)_(1894045 6_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nssv15651329	Remapped	Perfect	NC_000011.10:g.(?_ 18919650)_(1894045 6_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nssv15697635	Remapped	Perfect	NC_000011.10:g.(?_ 18919650)_(1894045 6_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	18,919,650	18,940,456
nssv15621984	Submitted genomic		NC_000011.9:g.(?_1 8941197)_(18962003 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	18,941,197	18,962,003
nssv15628491	Submitted genomic		NC_000011.9:g.(?_1 8941197)_(18962003 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	18,941,197	18,962,003
nssv15645533	Submitted genomic		NC_000011.9:g.(?_1 8941197)_(18962003 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	18,941,197	18,962,003
nssv15649273	Submitted genomic		NC_000011.9:g.(?_1 8941197)_(18962003 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	18,941,197	18,962,003
nssv15650858	Submitted genomic		NC_000011.9:g.(?_1 8941197)_(18962003 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	18,941,197	18,962,003
nssv15651329	Submitted genomic		NC_000011.9:g.(?_1 8941197)_(18962003 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	18,941,197	18,962,003
nssv15697635	Submitted genomic		NC_000011.9:g.(?_1 8941197)_(18962003 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	18,941,197	18,962,003

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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