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dbVar

Database of genomic structural variation

nsv508384

Organism: Homo sapiens

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

Variant Calls:4
Validation:Yes
Clinical Assertions: Yes
Region Size:48,745

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: 279 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):152,059,021-152,107,765

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv508384	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	152,059,021	152,107,765
nsv508384	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	151,438,582	151,487,326
nsv508384	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000005.8	Chr5	151,418,775	151,467,519

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
nssv617514	deletion	CHM	Optical mapping	Optical mapping	Hydatidiform Mole	not provided	Submitter	1,350
nssv618780	deletion	GM10860	Optical mapping	Optical mapping				1,998
nssv619963	deletion	GM15510	Optical mapping	Optical mapping				1,740
nssv622536	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
nssv617514	Remapped	Perfect	NC_000005.10:g.(15 2059021_?)_(?_1521 07765)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	152,059,021	152,107,765
nssv618780	Remapped	Perfect	NC_000005.10:g.(15 2059021_?)_(?_1521 07765)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	152,059,021	152,107,765
nssv619963	Remapped	Perfect	NC_000005.10:g.(15 2059021_?)_(?_1521 07765)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	152,059,021	152,107,765
nssv622536	Remapped	Perfect	NC_000005.10:g.(15 2059021_?)_(?_1521 07765)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	152,059,021	152,107,765
nssv617514	Remapped	Perfect	NC_000005.9:g.(151 438582_?)_(?_15148 7326)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	151,438,582	151,487,326
nssv618780	Remapped	Perfect	NC_000005.9:g.(151 438582_?)_(?_15148 7326)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	151,438,582	151,487,326
nssv619963	Remapped	Perfect	NC_000005.9:g.(151 438582_?)_(?_15148 7326)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	151,438,582	151,487,326
nssv622536	Remapped	Perfect	NC_000005.9:g.(151 438582_?)_(?_15148 7326)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	151,438,582	151,487,326
nssv617514	Submitted genomic		NC_000005.8:g.(151 418775_?)_(?_15146 7519)del7192	NCBI35 (hg17)		NC_000005.8	Chr5	151,418,775	151,467,519
nssv618780	Submitted genomic		NC_000005.8:g.(151 418775_?)_(?_15146 7519)del5652	NCBI35 (hg17)		NC_000005.8	Chr5	151,418,775	151,467,519
nssv619963	Submitted genomic		NC_000005.8:g.(151 418775_?)_(?_15146 7519)del7213	NCBI35 (hg17)		NC_000005.8	Chr5	151,418,775	151,467,519
nssv622536	Submitted genomic		NC_000005.8:g.(151 418775_?)_(?_15146 7519)del5308	NCBI35 (hg17)		NC_000005.8	Chr5	151,418,775	151,467,519

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv619963	4	GM15510	Sequencing	Paired-end mapping	Pass

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Other Calls in this Sample and Study
nssv617514	CHM	NCBI35: NC_000005.8:g.(151418775_?)_(?_151467519)del7192	deletion	Hydatidiform Mole	not provided	Submitter	Female	1,350

No genotype data were submitted for this variant

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