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dbVar

Database of genomic structural variation

nsv2781952

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: 138 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):136,677,093-136,677,093

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781952	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	136,677,093	136,677,093	+
nsv2781952	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	136,681,638	136,681,638	-
nsv2781952	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	181,231,051	181,231,051	-
nsv2781952	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	181,231,113	181,231,113	+
nsv2781952	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	137,434,663	137,434,663	+
nsv2781952	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	137,439,208	137,439,208	-
nsv2781952	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	182,095,778	182,095,778	-
nsv2781952	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	182,095,840	182,095,840	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660416	inversion	ROC58	Sequencing	Split read and paired-end mapping	SCV000320948	nssv13660417
nssv13660417	inversion	ROC58	Sequencing	Split read and paired-end mapping	SCV000320948	nssv13660416

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660416	Remapped	Perfect	NC_000002.12:g.136 677093invNC_000002 .12:g.181231051inv	GRCh38.p12	First Pass	NC_000002.12	Chr2	136,677,093	136,677,093
nssv13660417	Remapped	Perfect	NC_000002.12:g.136 681638invNC_000002 .12:g.181231113inv	GRCh38.p12	First Pass	NC_000002.12	Chr2	136,681,638	136,681,638
nssv13660416	Remapped	Perfect	NC_000002.12:g.136 677093invNC_000002 .12:g.181231051inv	GRCh38.p12	First Pass	NC_000002.12	Chr2	181,231,051	181,231,051
nssv13660417	Remapped	Perfect	NC_000002.12:g.136 681638invNC_000002 .12:g.181231113inv	GRCh38.p12	First Pass	NC_000002.12	Chr2	181,231,113	181,231,113
nssv13660416	Submitted genomic		[NC_000002.11:g.13 7434663inv];[NC_00 0002.11:g.18209577 8inv]	GRCh37 (hg19)		NC_000002.11	Chr2	137,434,663	137,434,663
nssv13660417	Submitted genomic		[NC_000002.11:g.13 7439208inv];[NC_00 0002.11:g.18209584 0inv]	GRCh37 (hg19)		NC_000002.11	Chr2	137,439,208	137,439,208
nssv13660416	Submitted genomic		[NC_000002.11:g.13 7434663inv];[NC_00 0002.11:g.18209577 8inv]	GRCh37 (hg19)		NC_000002.11	Chr2	182,095,778	182,095,778
nssv13660417	Submitted genomic		[NC_000002.11:g.13 7439208inv];[NC_00 0002.11:g.18209584 0inv]	GRCh37 (hg19)		NC_000002.11	Chr2	182,095,840	182,095,840

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
nssv13660416	ROC58	GRCh37: [NC_000002.11:g.137434663inv];[NC_000002.11:g.182095778inv]	inversion		SCV000320948	Male	nssv13660417
nssv13660417	ROC58	GRCh37: [NC_000002.11:g.137439208inv];[NC_000002.11:g.182095840inv]	inversion		SCV000320948	Male	nssv13660416

No genotype data were submitted for this variant

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