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dbVar

Database of genomic structural variation

nsv2781919

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: 112 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):130,803,668-130,803,668

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781919	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	130,803,668	130,803,668	+
nsv2781919	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	130,803,673	130,803,673	-
nsv2781919	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	33,711,495	33,711,495	-
nsv2781919	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	33,711,496	33,711,496	+
nsv2781919	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	131,124,808	131,124,808	+
nsv2781919	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	131,124,813	131,124,813	-
nsv2781919	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	33,679,272	33,679,272	-
nsv2781919	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	33,679,273	33,679,273	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660323	inversion	ROC14	Sequencing	Split read and paired-end mapping	SCV000320915	nssv13660322
nssv13660322	inversion	ROC14	Sequencing	Split read and paired-end mapping	SCV000320915	nssv13660323

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660323	Remapped	Perfect	NC_000006.12:g.337 11495inv767NC_0000 06.12:g.130803668i nv767	GRCh38.p12	First Pass	NC_000006.12	Chr6	33,711,495	33,711,495
nssv13660322	Remapped	Perfect	NC_000006.12:g.337 11496inv480NC_0000 06.12:g.130803673i nv480	GRCh38.p12	First Pass	NC_000006.12	Chr6	33,711,496	33,711,496
nssv13660323	Remapped	Perfect	NC_000006.12:g.337 11495inv767NC_0000 06.12:g.130803668i nv767	GRCh38.p12	First Pass	NC_000006.12	Chr6	130,803,668	130,803,668
nssv13660322	Remapped	Perfect	NC_000006.12:g.337 11496inv480NC_0000 06.12:g.130803673i nv480	GRCh38.p12	First Pass	NC_000006.12	Chr6	130,803,673	130,803,673
nssv13660323	Submitted genomic		[NC_000006.11:g.33 679272inv767];[NC_ 000006.11:g.131124 808inv767]	GRCh37 (hg19)		NC_000006.11	Chr6	33,679,272	33,679,272
nssv13660322	Submitted genomic		[NC_000006.11:g.33 679273inv480];[NC_ 000006.11:g.131124 813inv480]	GRCh37 (hg19)		NC_000006.11	Chr6	33,679,273	33,679,273
nssv13660323	Submitted genomic		[NC_000006.11:g.33 679272inv767];[NC_ 000006.11:g.131124 808inv767]	GRCh37 (hg19)		NC_000006.11	Chr6	131,124,808	131,124,808
nssv13660322	Submitted genomic		[NC_000006.11:g.33 679273inv480];[NC_ 000006.11:g.131124 813inv480]	GRCh37 (hg19)		NC_000006.11	Chr6	131,124,813	131,124,813

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
nssv13660323	ROC14	GRCh37: [NC_000006.11:g.33679272inv767];[NC_000006.11:g.131124808inv767]	inversion		SCV000320915	Female	nssv13660322
nssv13660322	ROC14	GRCh37: [NC_000006.11:g.33679273inv480];[NC_000006.11:g.131124813inv480]	inversion		SCV000320915	Female	nssv13660323

No genotype data were submitted for this variant

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