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dbVar

Database of genomic structural variation

nsv442007

Organism: Homo sapiens

Study:nstd22 (McCarroll et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:34,421

Publication(s):McCarroll et al. 2008

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: 427 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):124,114,800-124,149,220

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442007	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	124,114,800	124,149,220
nsv442007	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	124,435,945	124,470,365
nsv442007	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000006.9	Chr6	124,477,644	124,512,064

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1658164	copy number gain	NA06994	SNP array	Probe signal intensity	3	155
nssv1658165	copy number gain	NA07029	SNP array	Probe signal intensity	3	147
nssv1658166	copy number gain	NA11832	SNP array	Probe signal intensity	3	160
nssv1658167	copy number gain	NA12875	SNP array	Probe signal intensity	3	146

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1658164	Remapped	Perfect	NC_000006.12:g.(?_ 124114800)_(124149 220_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,114,800	124,149,220
nssv1658165	Remapped	Perfect	NC_000006.12:g.(?_ 124114800)_(124149 220_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,114,800	124,149,220
nssv1658166	Remapped	Perfect	NC_000006.12:g.(?_ 124114800)_(124149 220_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,114,800	124,149,220
nssv1658167	Remapped	Perfect	NC_000006.12:g.(?_ 124114800)_(124149 220_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	124,114,800	124,149,220
nssv1658164	Remapped	Perfect	NC_000006.11:g.(?_ 124435945)_(124470 365_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	124,435,945	124,470,365
nssv1658165	Remapped	Perfect	NC_000006.11:g.(?_ 124435945)_(124470 365_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	124,435,945	124,470,365
nssv1658166	Remapped	Perfect	NC_000006.11:g.(?_ 124435945)_(124470 365_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	124,435,945	124,470,365
nssv1658167	Remapped	Perfect	NC_000006.11:g.(?_ 124435945)_(124470 365_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	124,435,945	124,470,365
nssv1658164	Submitted genomic		NC_000006.9:g.(?_1 24477644)_(1245120 64_?)dup	NCBI35 (hg17)		NC_000006.9	Chr6	124,477,644	124,512,064
nssv1658165	Submitted genomic		NC_000006.9:g.(?_1 24477644)_(1245120 64_?)dup	NCBI35 (hg17)		NC_000006.9	Chr6	124,477,644	124,512,064
nssv1658166	Submitted genomic		NC_000006.9:g.(?_1 24477644)_(1245120 64_?)dup	NCBI35 (hg17)		NC_000006.9	Chr6	124,477,644	124,512,064
nssv1658167	Submitted genomic		NC_000006.9:g.(?_1 24477644)_(1245120 64_?)dup	NCBI35 (hg17)		NC_000006.9	Chr6	124,477,644	124,512,064

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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