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dbVar

Database of genomic structural variation

nsv482548

Organism: Homo sapiens

Study:nstd40 (Sharp et al. 2006)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI34 (hg16)

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:197,526

Publication(s):Sharp et al. 2006

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: 498 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):107,525,371-107,722,896

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv482548	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	107,525,371	107,722,896
nsv482548	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	108,067,993	108,265,518
nsv482548	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000001.7	Chr1	107,422,667	107,620,192

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv3005694	copy number gain	BAC aCGH	Probe signal intensity
nssv3006348	copy number gain	BAC aCGH	Probe signal intensity
nssv3007126	copy number gain	BAC aCGH	Probe signal intensity
nssv3007318	copy number gain	BAC aCGH	Probe signal intensity
nssv3007952	copy number gain	BAC aCGH	Probe signal intensity
nssv3010422	copy number gain	BAC aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv3005694	Remapped	Perfect	NC_000001.11:g.(?_ 107525371)_(107722 896_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	107,525,371	107,722,896
nssv3006348	Remapped	Perfect	NC_000001.11:g.(?_ 107525371)_(107722 896_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	107,525,371	107,722,896
nssv3007126	Remapped	Perfect	NC_000001.11:g.(?_ 107525371)_(107722 896_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	107,525,371	107,722,896
nssv3007318	Remapped	Perfect	NC_000001.11:g.(?_ 107525371)_(107722 896_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	107,525,371	107,722,896
nssv3007952	Remapped	Perfect	NC_000001.11:g.(?_ 107525371)_(107722 896_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	107,525,371	107,722,896
nssv3010422	Remapped	Perfect	NC_000001.11:g.(?_ 107525371)_(107722 896_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	107,525,371	107,722,896
nssv3005694	Remapped	Perfect	NC_000001.10:g.(?_ 108067993)_(108265 518_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	108,067,993	108,265,518
nssv3006348	Remapped	Perfect	NC_000001.10:g.(?_ 108067993)_(108265 518_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	108,067,993	108,265,518
nssv3007126	Remapped	Perfect	NC_000001.10:g.(?_ 108067993)_(108265 518_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	108,067,993	108,265,518
nssv3007318	Remapped	Perfect	NC_000001.10:g.(?_ 108067993)_(108265 518_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	108,067,993	108,265,518
nssv3007952	Remapped	Perfect	NC_000001.10:g.(?_ 108067993)_(108265 518_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	108,067,993	108,265,518
nssv3010422	Remapped	Perfect	NC_000001.10:g.(?_ 108067993)_(108265 518_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	108,067,993	108,265,518
nssv3005694	Submitted genomic		NC_000001.7:g.(?_1 07422667)_(1076201 92_?)dup	NCBI34 (hg16)		NC_000001.7	Chr1	107,422,667	107,620,192
nssv3006348	Submitted genomic		NC_000001.7:g.(?_1 07422667)_(1076201 92_?)dup	NCBI34 (hg16)		NC_000001.7	Chr1	107,422,667	107,620,192
nssv3007126	Submitted genomic		NC_000001.7:g.(?_1 07422667)_(1076201 92_?)dup	NCBI34 (hg16)		NC_000001.7	Chr1	107,422,667	107,620,192
nssv3007318	Submitted genomic		NC_000001.7:g.(?_1 07422667)_(1076201 92_?)dup	NCBI34 (hg16)		NC_000001.7	Chr1	107,422,667	107,620,192
nssv3007952	Submitted genomic		NC_000001.7:g.(?_1 07422667)_(1076201 92_?)dup	NCBI34 (hg16)		NC_000001.7	Chr1	107,422,667	107,620,192
nssv3010422	Submitted genomic		NC_000001.7:g.(?_1 07422667)_(1076201 92_?)dup	NCBI34 (hg16)		NC_000001.7	Chr1	107,422,667	107,620,192

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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