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dbVar

Database of genomic structural variation

nsv2781992

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: 166 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):114,729,072-114,729,072

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781992	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	114,729,072	114,729,072	+
nsv2781992	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	114,729,075	114,729,075	+
nsv2781992	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	68,022,824	68,022,824	+
nsv2781992	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	68,022,825	68,022,825	+
nsv2781992	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	114,447,919	114,447,919	+
nsv2781992	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	114,447,922	114,447,922	+
nsv2781992	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	65,690,061	65,690,061	+
nsv2781992	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	65,690,062	65,690,062	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660554	interchromosomal translocation	UTR17	Sequencing	Split read and paired-end mapping	SCV000320987	nssv13660555
nssv13660555	interchromosomal translocation	UTR17	Sequencing	Split read and paired-end mapping	SCV000320987	nssv13660554

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv13660554	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	114,729,072	114,729,072	+
nssv13660555	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	114,729,075	114,729,075	+
nssv13660554	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,022,824	68,022,824	+
nssv13660555	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	68,022,825	68,022,825	+
nssv13660554	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	114,447,919	114,447,919	+
nssv13660555	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	114,447,922	114,447,922	+
nssv13660554	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	65,690,061	65,690,061	+
nssv13660555	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	65,690,062	65,690,062	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660554	UTR17	interchromosomal translocation		SCV000320987	Male	nssv13660555
nssv13660555	UTR17	interchromosomal translocation		SCV000320987	Male	nssv13660554

No genotype data were submitted for this variant

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