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dbVar

Database of genomic structural variation

nsv10582

Organism: Homo sapiens

Study:nstd4 (Perry et al. 2008)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:19,941

Publication(s):Perry 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: 133 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):143,808,525-143,828,465

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv10582	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	143,808,525	143,828,465
nsv10582	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	144,729,678	144,749,618
nsv10582	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	145,087,283	145,107,223

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv11741	copy number loss	NA12872	Oligo aCGH	Probe signal intensity	470
nssv12628	copy number gain	NA19144	Oligo aCGH	Probe signal intensity	629

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv11741	Remapped	Perfect	NC_000004.12:g.(14 3808525_143808971) _(143810559_143811 543)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	143,808,525	143,808,971	143,810,559	143,811,543
nssv12628	Remapped	Perfect	NC_000004.12:g.(14 3808971_143809464) _(143826679_143828 465)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	143,808,971	143,809,464	143,826,679	143,828,465
nssv11741	Remapped	Perfect	NC_000004.11:g.(14 4729678_144730124) _(144731712_144732 696)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	144,729,678	144,730,124	144,731,712	144,732,696
nssv12628	Remapped	Perfect	NC_000004.11:g.(14 4730124_144730617) _(144747832_144749 618)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	144,730,124	144,730,617	144,747,832	144,749,618
nssv11741	Submitted genomic		NC_000004.9:g.(145 087283_145087729)_ (145089317_1450903 01)del	NCBI35 (hg17)		NC_000004.9	Chr4	145,087,283	145,087,729	145,089,317	145,090,301
nssv12628	Submitted genomic		NC_000004.9:g.(145 087729_145088222)_ (145105437_1451072 23)dup	NCBI35 (hg17)		NC_000004.9	Chr4	145,087,729	145,088,222	145,105,437	145,107,223

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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