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dbVar

Database of genomic structural variation

nsv5578

Organism: Homo sapiens

Study:nstd2 (Kidd et al. 2008)
Variant Type:insertion
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:58,307

Publication(s):Kidd et al. 2008

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: 452 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):161,707,243-161,765,549

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv5578	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	161,707,243	161,765,549
nsv5578	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	162,128,275	162,186,581
nsv5578	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000006.9	Chr6	162,098,686	162,156,992

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv6104	insertion	NA12156	Sequencing	Paired-end mapping	3,265
nssv3486	insertion	NA12878	Sequencing	Paired-end mapping	1,451
nssv2742	insertion	NA18555	Sequencing	Paired-end mapping	1,472

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv6104	Remapped	Perfect	NC_000006.12:g.(16 1707243_?)_(?_1617 39384)ins7268	GRCh38.p12	First Pass	NC_000006.12	Chr6	161,707,243	161,739,384
nssv3486	Remapped	Perfect	NC_000006.12:g.(16 1731938_?)_(?_1617 65526)ins5292	GRCh38.p12	First Pass	NC_000006.12	Chr6	161,731,938	161,765,526
nssv2742	Remapped	Perfect	NC_000006.12:g.(16 1738964_?)_(?_1617 65549)ins7694	GRCh38.p12	First Pass	NC_000006.12	Chr6	161,738,964	161,765,549
nssv6104	Remapped	Perfect	NC_000006.11:g.(16 2128275_?)_(?_1621 60416)ins7268	GRCh37.p13	First Pass	NC_000006.11	Chr6	162,128,275	162,160,416
nssv3486	Remapped	Perfect	NC_000006.11:g.(16 2152970_?)_(?_1621 86558)ins5292	GRCh37.p13	First Pass	NC_000006.11	Chr6	162,152,970	162,186,558
nssv2742	Remapped	Perfect	NC_000006.11:g.(16 2159996_?)_(?_1621 86581)ins7694	GRCh37.p13	First Pass	NC_000006.11	Chr6	162,159,996	162,186,581
nssv6104	Submitted genomic		NC_000006.9:g.(162 098686_?)_(?_16213 0827)ins7268	NCBI35 (hg17)		NC_000006.9	Chr6	162,098,686	162,130,827
nssv3486	Submitted genomic		NC_000006.9:g.(162 123381_?)_(?_16215 6969)ins5292	NCBI35 (hg17)		NC_000006.9	Chr6	162,123,381	162,156,969
nssv2742	Submitted genomic		NC_000006.9:g.(162 130407_?)_(?_16215 6992)ins7694	NCBI35 (hg17)		NC_000006.9	Chr6	162,130,407	162,156,992

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv2742	3	NA18555	Multiple complete digestion	MCD analysis	Pass
nssv3486	5	NA12878	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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