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dbVar

Database of genomic structural variation

nsv2741912

Organism: Homo sapiens

Study:nstd130 (Leppa et al. 2016)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:54,585

Publication(s):Leppa et al. 2016

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: 896 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):31,983,155-32,037,738

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv2741912	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,983,155	32,037,738
nsv2741912	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	3,349,941	3,379,775
nsv2741912	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	3,284,344	3,338,928
nsv2741912	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	3,230,928	3,265,197
nsv2741912	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,950,932	32,005,515
nsv2741912	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_3	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	3,236,513	3,270,782
nsv2741912	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_5	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	3,355,526	3,385,360
nsv2741912	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_7	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	3,283,642	3,338,226
nsv2741912	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	32,058,911	32,113,494

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv13577024	duplication	SNP array	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv13577024	Remapped	Good	NT_167249.2:g.(?_3 284344)_(3338928_? )dup	GRCh38.p12	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	3,284,344	3,338,928
nssv13577024	Remapped	Pass	NT_167247.2:g.(?_3 349941)_(3379775_? )dup	GRCh38.p12	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	3,349,941	3,379,775
nssv13577024	Remapped	Pass	NT_167245.2:g.(?_3 230928)_(3265197_? )dup	GRCh38.p12	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	3,230,928	3,265,197
nssv13577024	Remapped	Perfect	NC_000006.12:g.(?_ 31983155)_(3203773 8_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,983,155	32,037,738
nssv13577024	Remapped	Pass	NT_167245.1:g.(?_3 236513)_(3270782_? )dupNT_167245.1:g. (?_3236513)_(32707 82_?)dup	GRCh37.p13	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	3,236,513	3,270,782
nssv13577024	Remapped	Good	NT_167249.1:g.(?_3 283642)_(3338226_? )dup	GRCh37.p13	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	3,283,642	3,338,226
nssv13577024	Remapped	Pass	NT_167247.1:g.(?_3 355526)_(3385360_? )dupNT_167247.1:g. (?_3355526)_(33853 60_?)dup	GRCh37.p13	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	3,355,526	3,385,360
nssv13577024	Remapped	Perfect	NC_000006.11:g.(?_ 31950932)_(3200551 5_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,950,932	32,005,515
nssv13577024	Submitted genomic		NC_000006.10:g.(?_ 32058911)_(3211349 4_?)dup	NCBI36 (hg18)		NC_000006.10	Chr6	32,058,911	32,113,494

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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