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dbVar

Database of genomic structural variation

nsv3318408

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:11,647

Publication(s):Frenkel 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: 231 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):166,804,544-166,816,190

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318408	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nsv3318408	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	166,522,332	166,533,978

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467847	copy number gain	M2112	SNP array	SNP genotyping analysis	22
nssv14468270	copy number gain	M2136	SNP array	SNP genotyping analysis	54
nssv14468330	copy number gain	M2140	SNP array	SNP genotyping analysis	15
nssv14469381	copy number gain	M2231	SNP array	SNP genotyping analysis	18
nssv14469762	copy number gain	M2266	SNP array	SNP genotyping analysis	28
nssv14469891	copy number gain	M2281	SNP array	SNP genotyping analysis	30
nssv14470957	copy number gain	M2395	SNP array	SNP genotyping analysis	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467847	Remapped	Perfect	NC_000003.12:g.(?_ 166804544)_(166816 190_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nssv14468270	Remapped	Perfect	NC_000003.12:g.(?_ 166804544)_(166816 190_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nssv14468330	Remapped	Perfect	NC_000003.12:g.(?_ 166804544)_(166816 190_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nssv14469381	Remapped	Perfect	NC_000003.12:g.(?_ 166804544)_(166816 190_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nssv14469762	Remapped	Perfect	NC_000003.12:g.(?_ 166804544)_(166816 190_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nssv14469891	Remapped	Perfect	NC_000003.12:g.(?_ 166804544)_(166816 190_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nssv14470957	Remapped	Perfect	NC_000003.12:g.(?_ 166804544)_(166816 190_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	166,804,544	166,816,190
nssv14467847	Submitted genomic		NC_000003.11:g.(?_ 166522332)_(166533 978_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	166,522,332	166,533,978
nssv14468270	Submitted genomic		NC_000003.11:g.(?_ 166522332)_(166533 978_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	166,522,332	166,533,978
nssv14468330	Submitted genomic		NC_000003.11:g.(?_ 166522332)_(166533 978_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	166,522,332	166,533,978
nssv14469381	Submitted genomic		NC_000003.11:g.(?_ 166522332)_(166533 978_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	166,522,332	166,533,978
nssv14469762	Submitted genomic		NC_000003.11:g.(?_ 166522332)_(166533 978_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	166,522,332	166,533,978
nssv14469891	Submitted genomic		NC_000003.11:g.(?_ 166522332)_(166533 978_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	166,522,332	166,533,978
nssv14470957	Submitted genomic		NC_000003.11:g.(?_ 166522332)_(166533 978_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	166,522,332	166,533,978

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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