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dbVar

Database of genomic structural variation

nsv930486

Organism: Homo sapiens

Study:nstd78 (Schrider et al. 2013)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:25

Description:
retroCNV insertion of a retrotransposition of GAPDH mRNA.
Publication(s):Schrider et al. 2013

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: 94 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):57,190,143-57,190,167

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv930486	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	57,190,143	57,190,167
nsv930486	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	56,485,970	56,485,994

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv1607684	insertion	Sequencing	Paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv1607684	Remapped	Perfect	NC_000005.10:g.(57 190143_?)_(?_57190 167)ins785	GRCh38.p12	First Pass	NC_000005.10	Chr5	57,190,143	57,190,167
nssv1607684	Submitted genomic		NC_000005.9:g.(564 85970_?)_(?_564859 94)ins785	GRCh37 (hg19)		NC_000005.9	Chr5	56,485,970	56,485,994

Validation Information

Variant Call ID	Experiment ID	Method	Analysis	Result
nssv1607684	2	PCR	Manual observation	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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