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

dbVar

Database of genomic structural variation

nsv471430

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:24,047

Description:UGT2B15
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: 46 SVs from 11 studies. See in: genome view

Remapped(Score: Perfect):222,965-247,011

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471430	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_167250.2	Chr4\|NT_16 7250.2	222,965	247,011
nsv471430	Remapped	Perfect	GRCh37.p13	ALT_REF_LOCI_8	First Pass	NT_167250.1	Chr4\|NT_16 7250.1	224,915	248,961
nsv471430	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000004.9	Chr4	69,693,104	69,717,150

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548258	copy number gain	JDW	Sequencing	Read depth	5	198
nssv548259	copy number gain	NA18507	Sequencing	Read depth	4	208
nssv548260	copy number gain	YH	Sequencing	Read depth	3	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548258	Remapped	Perfect	NT_167250.2:g.(222 965_?)_(?_247011)d up	GRCh38.p12	First Pass	NT_167250.2	Chr4\|NT_16 7250.2	222,965	247,011
nssv548259	Remapped	Perfect	NT_167250.2:g.(222 965_?)_(?_247011)d up	GRCh38.p12	First Pass	NT_167250.2	Chr4\|NT_16 7250.2	222,965	247,011
nssv548260	Remapped	Perfect	NT_167250.2:g.(222 965_?)_(?_247011)d up	GRCh38.p12	First Pass	NT_167250.2	Chr4\|NT_16 7250.2	222,965	247,011
nssv548258	Remapped	Perfect	NT_167250.1:g.(224 915_?)_(?_248961)d upNT_167250.1:g.(2 24915_?)_(?_248961 )dup	GRCh37.p13	First Pass	NT_167250.1	Chr4\|NT_16 7250.1	224,915	248,961
nssv548259	Remapped	Perfect	NT_167250.1:g.(224 915_?)_(?_248961)d upNT_167250.1:g.(2 24915_?)_(?_248961 )dup	GRCh37.p13	First Pass	NT_167250.1	Chr4\|NT_16 7250.1	224,915	248,961
nssv548260	Remapped	Perfect	NT_167250.1:g.(224 915_?)_(?_248961)d upNT_167250.1:g.(2 24915_?)_(?_248961 )dup	GRCh37.p13	First Pass	NT_167250.1	Chr4\|NT_16 7250.1	224,915	248,961
nssv548258	Submitted genomic		NC_000004.9:g.(696 93104_?)_(?_697171 50)dup	NCBI35 (hg17)		NC_000004.9	Chr4	69,693,104	69,717,150
nssv548259	Submitted genomic		NC_000004.9:g.(696 93104_?)_(?_697171 50)dup	NCBI35 (hg17)		NC_000004.9	Chr4	69,693,104	69,717,150
nssv548260	Submitted genomic		NC_000004.9:g.(696 93104_?)_(?_697171 50)dup	NCBI35 (hg17)		NC_000004.9	Chr4	69,693,104	69,717,150

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548258	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548259	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548260	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