Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv471445

Organism: Homo sapiens

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

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:20,317

Description:PMS2L3
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: 227 SVs from 54 studies. See in: genome view

Remapped(Score: Good):75,507,748-75,528,064

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471445	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	75,507,748	75,528,064
nsv471445	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	75,137,070	75,157,394
nsv471445	Remapped	Good	GRCh37.p13	PATCHES	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	3,036,984	3,057,300
nsv471445	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000007.11	Chr7	74,781,721	74,802,045

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548296	copy number gain	JDW	Sequencing	Read depth	9	198
nssv548297	copy number gain	NA18507	Sequencing	Read depth	10	208
nssv548298	copy number gain	YH	Sequencing	Read depth	7	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548296	Remapped	Good	NC_000007.14:g.(75 507748_?)_(?_75528 064)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	75,507,748	75,528,064
nssv548297	Remapped	Good	NC_000007.14:g.(75 507748_?)_(?_75528 064)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	75,507,748	75,528,064
nssv548298	Remapped	Good	NC_000007.14:g.(75 507748_?)_(?_75528 064)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	75,507,748	75,528,064
nssv548296	Remapped	Good	NW_003871064.1:g.( 3036984_?)_(?_3057 300)dup	GRCh37.p13	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	3,036,984	3,057,300
nssv548297	Remapped	Good	NW_003871064.1:g.( 3036984_?)_(?_3057 300)dup	GRCh37.p13	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	3,036,984	3,057,300
nssv548298	Remapped	Good	NW_003871064.1:g.( 3036984_?)_(?_3057 300)dup	GRCh37.p13	Second Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	3,036,984	3,057,300
nssv548296	Remapped	Perfect	NC_000007.13:g.(75 137070_?)_(?_75157 394)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	75,137,070	75,157,394
nssv548297	Remapped	Perfect	NC_000007.13:g.(75 137070_?)_(?_75157 394)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	75,137,070	75,157,394
nssv548298	Remapped	Perfect	NC_000007.13:g.(75 137070_?)_(?_75157 394)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	75,137,070	75,157,394
nssv548296	Submitted genomic		NC_000007.11:g.(74 781721_?)_(?_74802 045)dup	NCBI35 (hg17)		NC_000007.11	Chr7	74,781,721	74,802,045
nssv548297	Submitted genomic		NC_000007.11:g.(74 781721_?)_(?_74802 045)dup	NCBI35 (hg17)		NC_000007.11	Chr7	74,781,721	74,802,045
nssv548298	Submitted genomic		NC_000007.11:g.(74 781721_?)_(?_74802 045)dup	NCBI35 (hg17)		NC_000007.11	Chr7	74,781,721	74,802,045

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548296	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548297	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548298	4	YH	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI