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dbVar

Database of genomic structural variation

nsv441786

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:39,773

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: 210 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):135,435,209-135,474,981

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv441786	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	135,435,209	135,474,981
nsv441786	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	136,192,779	136,232,551
nsv441786	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	136,026,511	136,066,283

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1657112	copy number gain	NA18940	SNP array	Probe signal intensity	3	154
nssv1657113	copy number gain	NA18960	SNP array	Probe signal intensity	3	163
nssv1657114	copy number gain	NA18961	SNP array	Probe signal intensity	3	121
nssv1657115	copy number gain	NA18974	SNP array	Probe signal intensity	3	147
nssv1657116	copy number gain	NA19003	SNP array	Probe signal intensity	3	152

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1657112	Remapped	Perfect	NC_000002.12:g.(?_ 135435209)_(135474 981_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	135,435,209	135,474,981
nssv1657113	Remapped	Perfect	NC_000002.12:g.(?_ 135435209)_(135474 981_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	135,435,209	135,474,981
nssv1657114	Remapped	Perfect	NC_000002.12:g.(?_ 135435209)_(135474 981_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	135,435,209	135,474,981
nssv1657115	Remapped	Perfect	NC_000002.12:g.(?_ 135435209)_(135474 981_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	135,435,209	135,474,981
nssv1657116	Remapped	Perfect	NC_000002.12:g.(?_ 135435209)_(135474 981_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	135,435,209	135,474,981
nssv1657112	Remapped	Perfect	NC_000002.11:g.(?_ 136192779)_(136232 551_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	136,192,779	136,232,551
nssv1657113	Remapped	Perfect	NC_000002.11:g.(?_ 136192779)_(136232 551_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	136,192,779	136,232,551
nssv1657114	Remapped	Perfect	NC_000002.11:g.(?_ 136192779)_(136232 551_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	136,192,779	136,232,551
nssv1657115	Remapped	Perfect	NC_000002.11:g.(?_ 136192779)_(136232 551_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	136,192,779	136,232,551
nssv1657116	Remapped	Perfect	NC_000002.11:g.(?_ 136192779)_(136232 551_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	136,192,779	136,232,551
nssv1657112	Submitted genomic		NC_000002.9:g.(?_1 36026511)_(1360662 83_?)dup	NCBI35 (hg17)		NC_000002.9	Chr2	136,026,511	136,066,283
nssv1657113	Submitted genomic		NC_000002.9:g.(?_1 36026511)_(1360662 83_?)dup	NCBI35 (hg17)		NC_000002.9	Chr2	136,026,511	136,066,283
nssv1657114	Submitted genomic		NC_000002.9:g.(?_1 36026511)_(1360662 83_?)dup	NCBI35 (hg17)		NC_000002.9	Chr2	136,026,511	136,066,283
nssv1657115	Submitted genomic		NC_000002.9:g.(?_1 36026511)_(1360662 83_?)dup	NCBI35 (hg17)		NC_000002.9	Chr2	136,026,511	136,066,283
nssv1657116	Submitted genomic		NC_000002.9:g.(?_1 36026511)_(1360662 83_?)dup	NCBI35 (hg17)		NC_000002.9	Chr2	136,026,511	136,066,283

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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