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dbVar

Database of genomic structural variation

nsv2781875

Organism: Homo sapiens

Study:nstd133 (Redin et al. 2016)
Variant Type:complex chromosomal rearrangement
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Publication(s):Redin et al. 2016

Links to Other Resources

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: 430 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):151,116,225-151,116,225

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781875	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	151,116,225	151,116,225	-
nsv2781875	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	151,116,229	151,116,229	+
nsv2781875	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	55,148,030	55,148,030	+
nsv2781875	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	55,148,030	55,148,030	-
nsv2781875	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	150,284,697	150,284,697	-
nsv2781875	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	150,284,701	150,284,701	+
nsv2781875	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	55,174,463	55,174,463	+
nsv2781875	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	55,174,463	55,174,463	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660238	inversion	DGAP285	Sequencing	Split read and paired-end mapping	SCV000320876	nssv13660239
nssv13660239	inversion	DGAP285	Sequencing	Split read and paired-end mapping	SCV000320876	nssv13660238

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660238	Remapped	Perfect	NC_000023.11:g.551 48030inv675NC_0000 23.11:g.151116225i nv675	GRCh38.p12	First Pass	NC_000023.11	ChrX	55,148,030	55,148,030
nssv13660239	Remapped	Perfect	NC_000023.11:g.551 48030inv909NC_0000 23.11:g.151116229i nv909	GRCh38.p12	First Pass	NC_000023.11	ChrX	55,148,030	55,148,030
nssv13660238	Remapped	Perfect	NC_000023.11:g.551 48030inv675NC_0000 23.11:g.151116225i nv675	GRCh38.p12	First Pass	NC_000023.11	ChrX	151,116,225	151,116,225
nssv13660239	Remapped	Perfect	NC_000023.11:g.551 48030inv909NC_0000 23.11:g.151116229i nv909	GRCh38.p12	First Pass	NC_000023.11	ChrX	151,116,229	151,116,229
nssv13660238	Submitted genomic		[NC_000023.10:g.55 174463inv675];[NC_ 000023.10:g.150284 697inv675]	GRCh37 (hg19)		NC_000023.10	ChrX	55,174,463	55,174,463
nssv13660239	Submitted genomic		[NC_000023.10:g.55 174463inv909];[NC_ 000023.10:g.150284 701inv909]	GRCh37 (hg19)		NC_000023.10	ChrX	55,174,463	55,174,463
nssv13660238	Submitted genomic		[NC_000023.10:g.55 174463inv675];[NC_ 000023.10:g.150284 697inv675]	GRCh37 (hg19)		NC_000023.10	ChrX	150,284,697	150,284,697
nssv13660239	Submitted genomic		[NC_000023.10:g.55 174463inv909];[NC_ 000023.10:g.150284 701inv909]	GRCh37 (hg19)		NC_000023.10	ChrX	150,284,701	150,284,701

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660238	DGAP285	GRCh37: [NC_000023.10:g.55174463inv675];[NC_000023.10:g.150284697inv675]	inversion		SCV000320876	Male	nssv13660239
nssv13660239	DGAP285	GRCh37: [NC_000023.10:g.55174463inv909];[NC_000023.10:g.150284701inv909]	inversion		SCV000320876	Male	nssv13660238

No genotype data were submitted for this variant

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