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dbVar

Database of genomic structural variation

nsv3915755

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:237,589

Description:NCBI36/hg18 10q26.3(chr10:133386735-133527514)x3 AND See cases

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: 1395 SVs from 75 studies. See in: genome view

Remapped(Score: Pass):131,684,529-131,922,117

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
nsv3915755	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	131,684,529	131,684,529	131,922,117	131,922,117
nsv3915755	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	133,516,865	133,516,865	133,735,621	133,735,621
nsv3915755	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	133,366,855	133,386,735	133,527,514	133,585,611

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127112	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450258.2, VCV000398645.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15127112	Remapped	Pass	NC_000010.11:g.(13 1684529_131684529) _(131922117_131922 117)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	131,684,529	131,684,529	131,922,117	131,922,117
nssv15127112	Remapped	Perfect	NC_000010.10:g.(13 3516865_133516865) _(133735621_133735 621)dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	133,516,865	133,516,865	133,735,621	133,735,621
nssv15127112	Submitted genomic		NC_000010.9:g.(133 366855_133386735)_ (133527514_1335856 11)dup	NCBI36 (hg18)		NC_000010.9	Chr10	133,366,855	133,386,735	133,527,514	133,585,611

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
nssv15127112	NCBI36: NC_000010.9:g.(133366855_133386735)_(133527514_133585611)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450258.2, VCV000398645.2	3

No genotype data were submitted for this variant

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