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dbVar

Database of genomic structural variation

nsv4360638

Organism: Homo sapiens

Study:nstd169 (Giner-Delgado et al. 2019)
Variant Type:inversion
Method Type:MLPA
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:21,426

Publication(s):Giner-Delgado et al. 2019

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: 269 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):34,540,845-34,562,270

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4360638	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	34,540,845	34,547,856	34,555,247	34,562,270
nsv4360638	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000014.8	Chr14	35,010,051	35,017,062	35,024,453	35,031,476

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15607148	inversion	MLPA	Genotyping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15607148	Remapped	Perfect	NC_000014.9:g.(345 40845_34547856)_(3 4555247_34562270)i nv	GRCh38.p12	First Pass	NC_000014.9	Chr14	34,540,845	34,547,856	34,555,247	34,562,270
nssv15607148	Submitted genomic		NC_000014.8:g.(350 10051_35017062)_(3 5024453_35031476)i nv	GRCh37.p13		NC_000014.8	Chr14	35,010,051	35,017,062	35,024,453	35,031,476

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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