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dbVar

Database of genomic structural variation

nsv4386759

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:31,137

Publication(s):Zarrei 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: 1278 SVs from 98 studies. See in: genome view

Remapped(Score: Good):54,218,570-54,249,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4386759	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NC_000019.10	Chr19	54,218,570	54,249,685
nsv4386759	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	193,553	224,657
nsv4386759	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_8	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	193,553	224,689
nsv4386759	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	193,556	224,653
nsv4386759	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	193,370	224,420
nsv4386759	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,722,439	54,753,543

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15626357	copy number loss	1-0413-002	SNP array	Genotyping	24
nssv15701940	copy number loss	199150	SNP array	Genotyping	18

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15626357	Remapped	Perfect	NT_187693.1:g.(?_1 93553)_(224657_?)d el	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	193,553	224,657
nssv15701940	Remapped	Perfect	NT_187693.1:g.(?_1 93553)_(224657_?)d el	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	193,553	224,657
nssv15626357	Remapped	Good	NW_003571061.2:g.( ?_193553)_(224689_ ?)del	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	193,553	224,689
nssv15701940	Remapped	Good	NW_003571061.2:g.( ?_193553)_(224689_ ?)del	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	193,553	224,689
nssv15626357	Remapped	Good	NW_003571060.1:g.( ?_193556)_(224653_ ?)del	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	193,556	224,653
nssv15701940	Remapped	Good	NW_003571060.1:g.( ?_193556)_(224653_ ?)del	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	193,556	224,653
nssv15626357	Remapped	Good	NW_003571054.1:g.( ?_193370)_(224420_ ?)del	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	193,370	224,420
nssv15701940	Remapped	Good	NW_003571054.1:g.( ?_193370)_(224420_ ?)del	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	193,370	224,420
nssv15626357	Remapped	Good	NC_000019.10:g.(?_ 54218570)_(5424968 5_?)del	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,218,570	54,249,685
nssv15701940	Remapped	Good	NC_000019.10:g.(?_ 54218570)_(5424968 5_?)del	GRCh38.p12	Second Pass	NC_000019.10	Chr19	54,218,570	54,249,685
nssv15626357	Submitted genomic		NC_000019.9:g.(?_5 4722439)_(54753543 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	54,722,439	54,753,543
nssv15701940	Submitted genomic		NC_000019.9:g.(?_5 4722439)_(54753543 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	54,722,439	54,753,543

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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