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dbVar

Database of genomic structural variation

nsv471441

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:17,826

Description:BTNL3
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: 667 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):180,988,901-181,006,726

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471441	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	180,988,901	181,006,726
nsv471441	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	180,415,901	180,433,726
nsv471441	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000005.8	Chr5	180,348,507	180,366,332

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548284	copy number loss	JDW	Sequencing	Read depth	1	198
nssv548285	copy number loss	YH	Sequencing	Read depth	1	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548284	Remapped	Perfect	NC_000005.10:g.(18 0988901_?)_(?_1810 06726)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	180,988,901	181,006,726
nssv548285	Remapped	Perfect	NC_000005.10:g.(18 0988901_?)_(?_1810 06726)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	180,988,901	181,006,726
nssv548284	Remapped	Perfect	NC_000005.9:g.(180 415901_?)_(?_18043 3726)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	180,415,901	180,433,726
nssv548285	Remapped	Perfect	NC_000005.9:g.(180 415901_?)_(?_18043 3726)del	GRCh37.p13	First Pass	NC_000005.9	Chr5	180,415,901	180,433,726
nssv548284	Submitted genomic		NC_000005.8:g.(180 348507_?)_(?_18036 6332)del	NCBI35 (hg17)		NC_000005.8	Chr5	180,348,507	180,366,332
nssv548285	Submitted genomic		NC_000005.8:g.(180 348507_?)_(?_18036 6332)del	NCBI35 (hg17)		NC_000005.8	Chr5	180,348,507	180,366,332

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548284	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548285	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

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