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dbVar

Database of genomic structural variation

nsv471519

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:28,590

Description:BMPR2
Publication(s):Alkan et al. 2009

Links to Other Resources

Overlapping Genes

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: 386 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):202,418,772-202,447,361

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471519	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	202,418,772	202,447,361
nsv471519	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	203,283,495	203,312,084
nsv471519	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	203,109,001	203,137,590

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547900	copy number loss	JDW	Sequencing	Read depth	1	198
nssv547912	copy number loss	NA18507	Sequencing	Read depth	1	208

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv547900	Remapped	Perfect	NC_000002.12:g.(20 2418772_?)_(?_2024 47361)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	202,418,772	202,447,361
nssv547912	Remapped	Perfect	NC_000002.12:g.(20 2418772_?)_(?_2024 47361)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	202,418,772	202,447,361
nssv547900	Remapped	Perfect	NC_000002.11:g.(20 3283495_?)_(?_2033 12084)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	203,283,495	203,312,084
nssv547912	Remapped	Perfect	NC_000002.11:g.(20 3283495_?)_(?_2033 12084)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	203,283,495	203,312,084
nssv547900	Submitted genomic		NC_000002.9:g.(203 109001_?)_(?_20313 7590)del	NCBI35 (hg17)		NC_000002.9	Chr2	203,109,001	203,137,590
nssv547912	Submitted genomic		NC_000002.9:g.(203 109001_?)_(?_20313 7590)del	NCBI35 (hg17)		NC_000002.9	Chr2	203,109,001	203,137,590

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv547900	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv547912	3	NA18507	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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