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dbVar

Database of genomic structural variation

nsv509762

Organism: Homo sapiens

Study:nstd49 (Teague et al. 2010)
Variant Type:insertion
Method Type:Optical mapping
Submitted on:NCBI35 (hg17)

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:33,675

Publication(s):Teague et al. 2010

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: 316 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):13,930,516-13,964,190

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv509762	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	13,930,516	13,964,190
nsv509762	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	13,911,162	13,944,836
nsv509762	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000020.9	Chr20	13,859,162	13,892,836

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Other Calls in this Sample and Study
nssv618135	insertion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv619842	insertion	GM10860	Optical mapping	Optical mapping				1,998
nssv621122	insertion	GM15510	Optical mapping	Optical mapping				1,740
nssv623822	insertion	GM18994	Optical mapping	Optical mapping				1,936

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv618135	Remapped	Perfect	NC_000020.11:g.(13 930516_?)_(?_13964 190)ins6771	GRCh38.p12	First Pass	NC_000020.11	Chr20	13,930,516	13,964,190
nssv619842	Remapped	Perfect	NC_000020.11:g.(13 930516_?)_(?_13964 190)ins6553	GRCh38.p12	First Pass	NC_000020.11	Chr20	13,930,516	13,964,190
nssv621122	Remapped	Perfect	NC_000020.11:g.(13 930516_?)_(?_13964 190)ins6296	GRCh38.p12	First Pass	NC_000020.11	Chr20	13,930,516	13,964,190
nssv623822	Remapped	Perfect	NC_000020.11:g.(13 930516_?)_(?_13964 190)ins6824	GRCh38.p12	First Pass	NC_000020.11	Chr20	13,930,516	13,964,190
nssv618135	Remapped	Perfect	NC_000020.10:g.(13 911162_?)_(?_13944 836)ins6771	GRCh37.p13	First Pass	NC_000020.10	Chr20	13,911,162	13,944,836
nssv619842	Remapped	Perfect	NC_000020.10:g.(13 911162_?)_(?_13944 836)ins6553	GRCh37.p13	First Pass	NC_000020.10	Chr20	13,911,162	13,944,836
nssv621122	Remapped	Perfect	NC_000020.10:g.(13 911162_?)_(?_13944 836)ins6296	GRCh37.p13	First Pass	NC_000020.10	Chr20	13,911,162	13,944,836
nssv623822	Remapped	Perfect	NC_000020.10:g.(13 911162_?)_(?_13944 836)ins6824	GRCh37.p13	First Pass	NC_000020.10	Chr20	13,911,162	13,944,836
nssv618135	Submitted genomic		NC_000020.9:g.(138 59162_?)_(?_138928 36)ins6771	NCBI35 (hg17)		NC_000020.9	Chr20	13,859,162	13,892,836
nssv619842	Submitted genomic		NC_000020.9:g.(138 59162_?)_(?_138928 36)ins6553	NCBI35 (hg17)		NC_000020.9	Chr20	13,859,162	13,892,836
nssv621122	Submitted genomic		NC_000020.9:g.(138 59162_?)_(?_138928 36)ins6296	NCBI35 (hg17)		NC_000020.9	Chr20	13,859,162	13,892,836
nssv623822	Submitted genomic		NC_000020.9:g.(138 59162_?)_(?_138928 36)ins6824	NCBI35 (hg17)		NC_000020.9	Chr20	13,859,162	13,892,836

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv618135	CHM	NCBI35: NC_000020.9:g.(13859162_?)_(?_13892836)ins6771	insertion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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