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dbVar

Database of genomic structural variation

nsv4728165

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:139,153

Description:GRCh37/hg19 Xq25-26.1(chrX:128679172-128818324)x2 AND not provided

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: 210 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):129,545,195-129,684,347

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4728165	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	129,545,195	129,684,347
nsv4728165	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	128,679,172	128,818,324

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16254380	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001259504.1, VCV000980328.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16254380	Remapped	Perfect	NC_000023.11:g.(?_ 129545195)_(129684 347_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	129,545,195	129,684,347
nssv16254380	Submitted genomic		NC_000023.10:g.(?_ 128679172)_(128818 324_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	128,679,172	128,818,324

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16254380	GRCh37: NC_000023.10:g.(?_128679172)_(128818324_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001259504.1, VCV000980328.1	2

No genotype data were submitted for this variant

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