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dbVar

Database of genomic structural variation

nsv972234

Organism: Homo sapiens

Study:nstd82 (Sudmant et al. 2013)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:16,465

Publication(s):Sudmant et al. 2013

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: 732 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):136,684,058-136,700,522

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv972234	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	136,684,058	136,700,522
nsv972234	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	137,696,301	137,712,765
nsv972234	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	137,765,483	137,781,947

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv2757751	deletion	HGDP00927	Sequencing	Read depth	1	17,185
nssv2766050	deletion	HGDP01284	Sequencing	Read depth	1	17,196

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv2757751	Remapped	Perfect	NC_000008.11:g.(?_ 136684058)_(136700 522_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,684,058	136,700,522
nssv2766050	Remapped	Perfect	NC_000008.11:g.(?_ 136684058)_(136700 522_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	136,684,058	136,700,522
nssv2757751	Remapped	Perfect	NC_000008.10:g.(?_ 137696301)_(137712 765_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	137,696,301	137,712,765
nssv2766050	Remapped	Perfect	NC_000008.10:g.(?_ 137696301)_(137712 765_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	137,696,301	137,712,765
nssv2757751	Submitted genomic		NC_000008.9:g.(?_1 37765483)_(1377819 47_?)del	NCBI36 (hg18)		NC_000008.9	Chr8	137,765,483	137,781,947
nssv2766050	Submitted genomic		NC_000008.9:g.(?_1 37765483)_(1377819 47_?)del	NCBI36 (hg18)		NC_000008.9	Chr8	137,765,483	137,781,947

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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