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dbVar

Database of genomic structural variation

nsv508341

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:46,855

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: 1360 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):186,927,985-186,974,839

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508341	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	186,927,985	186,974,839
nsv508341	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187542.1	Chr4\|NT_18 7542.1	7,594	46,610
nsv508341	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	187,849,139	187,895,993
nsv508341	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	188,224,288	188,271,142

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
nssv617505	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618762	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv622514	deletion	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
nssv617505	Remapped	Pass	NT_187542.1:g.(759 4_?)_(?_46610)del	GRCh38.p12	Second Pass	NT_187542.1	Chr4\|NT_18 7542.1	7,594	46,610
nssv618762	Remapped	Pass	NT_187542.1:g.(759 4_?)_(?_46610)del	GRCh38.p12	Second Pass	NT_187542.1	Chr4\|NT_18 7542.1	7,594	46,610
nssv622514	Remapped	Pass	NT_187542.1:g.(759 4_?)_(?_46610)del	GRCh38.p12	Second Pass	NT_187542.1	Chr4\|NT_18 7542.1	7,594	46,610
nssv617505	Remapped	Perfect	NC_000004.12:g.(18 6927985_?)_(?_1869 74839)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	186,927,985	186,974,839
nssv618762	Remapped	Perfect	NC_000004.12:g.(18 6927985_?)_(?_1869 74839)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	186,927,985	186,974,839
nssv622514	Remapped	Perfect	NC_000004.12:g.(18 6927985_?)_(?_1869 74839)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	186,927,985	186,974,839
nssv617505	Remapped	Perfect	NC_000004.11:g.(18 7849139_?)_(?_1878 95993)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	187,849,139	187,895,993
nssv618762	Remapped	Perfect	NC_000004.11:g.(18 7849139_?)_(?_1878 95993)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	187,849,139	187,895,993
nssv622514	Remapped	Perfect	NC_000004.11:g.(18 7849139_?)_(?_1878 95993)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	187,849,139	187,895,993
nssv617505	Submitted genomic		NC_000004.9:g.(188 224288_?)_(?_18827 1142)del7607	NCBI35 (hg17)		NC_000004.9	Chr4	188,224,288	188,271,142
nssv618762	Submitted genomic		NC_000004.9:g.(188 224288_?)_(?_18827 1142)del7244	NCBI35 (hg17)		NC_000004.9	Chr4	188,224,288	188,271,142
nssv622514	Submitted genomic		NC_000004.9:g.(188 224288_?)_(?_18827 1142)del3934	NCBI35 (hg17)		NC_000004.9	Chr4	188,224,288	188,271,142

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
nssv617505	CHM	NCBI35: NC_000004.9:g.(188224288_?)_(?_188271142)del7607	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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