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dbVar

Database of genomic structural variation

nsv1142063

Organism: Homo sapiens

Study:nstd106 (Alsmadi et al. 2014)
Variant Type:tandem duplication
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:27,624

Publication(s):Alsmadi et al. 2014

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: 308 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):85,512,386-85,540,009

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv1142063	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	85,512,386	85,540,009
nsv1142063	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	85,978,069	86,005,692

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv3960963	tandem duplication	KWS1	Sequencing	Read depth and paired-end mapping	22,470
nssv3983640	tandem duplication	KWS2	Sequencing	Read depth and paired-end mapping	21,718

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv3960963	Remapped	Perfect	NC_000001.11:g.(85 512386_?)_(?_85540 009)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	85,512,386	85,540,009
nssv3983640	Remapped	Perfect	NC_000001.11:g.(85 512386_?)_(?_85540 009)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	85,512,386	85,540,009
nssv3960963	Submitted genomic		NC_000001.10:g.(85 978069_?)_(?_86005 692)dup	GRCh37 (hg19)		NC_000001.10	Chr1	85,978,069	86,005,692
nssv3983640	Submitted genomic		NC_000001.10:g.(85 978069_?)_(?_86005 692)dup	GRCh37 (hg19)		NC_000001.10	Chr1	85,978,069	86,005,692

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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