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dbVar

Database of genomic structural variation

nsv4865340

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:677

Publication(s):Abel et al. 2020

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: 178 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):55,019,177-55,019,857

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4865340	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	55,019,180 (-3, +3)	55,019,856 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_9	Second Pass	NT_187693.1	Chr19\|NT_1 87693.1	1,001,662 (-3, +3)	1,002,338 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_8	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	731,341 (-3, +3)	732,017 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NW_003571058.2	Chr19\|NW_0 03571058.2	1,001,252 (-3, +3)	1,001,928 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_4	Second Pass	NW_003571057.2	Chr19\|NW_0 03571057.2	1,026,703 (-3, +3)	1,027,379 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	921,962 (-3, +3)	922,638 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_6	Second Pass	NW_003571059.2	Chr19\|NW_0 03571059.2	937,545 (-3, +3)	938,221 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NW_003571056.2	Chr19\|NW_0 03571056.2	999,166 (-3, +3)	999,842 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	664,382 (-3, +3)	665,058 (-1, +1)
nsv4865340	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	922,578 (-3, +3)	923,254 (-1, +1)
nsv4865340	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	55,530,548 (-3, +3)	55,531,224 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16390540	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16390540	Remapped	Perfect	NT_187693.1:g.(100 1659_1001665)_(100 2337_1002339)dup	GRCh38.p12	Second Pass	NT_187693.1	Chr19\|NT_1 87693.1	1,001,662 (-3, +3)	1,002,338 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571061.2:g.( 731338_731344)_(73 2016_732018)dup	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	731,341 (-3, +3)	732,017 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571060.1:g.( 921959_921965)_(92 2637_922639)dup	GRCh38.p12	Second Pass	NW_003571060.1	Chr19\|NW_0 03571060.1	921,962 (-3, +3)	922,638 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571059.2:g.( 937542_937548)_(93 8220_938222)dup	GRCh38.p12	Second Pass	NW_003571059.2	Chr19\|NW_0 03571059.2	937,545 (-3, +3)	938,221 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571058.2:g.( 1001249_1001255)_( 1001927_1001929)du p	GRCh38.p12	Second Pass	NW_003571058.2	Chr19\|NW_0 03571058.2	1,001,252 (-3, +3)	1,001,928 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571057.2:g.( 1026700_1026706)_( 1027378_1027380)du p	GRCh38.p12	Second Pass	NW_003571057.2	Chr19\|NW_0 03571057.2	1,026,703 (-3, +3)	1,027,379 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571056.2:g.( 999163_999169)_(99 9841_999843)dup	GRCh38.p12	Second Pass	NW_003571056.2	Chr19\|NW_0 03571056.2	999,166 (-3, +3)	999,842 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571055.2:g.( 664379_664385)_(66 5057_665059)dup	GRCh38.p12	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	664,382 (-3, +3)	665,058 (-1, +1)
nssv16390540	Remapped	Perfect	NW_003571054.1:g.( 922575_922581)_(92 3253_923255)dup	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	922,578 (-3, +3)	923,254 (-1, +1)
nssv16390540	Remapped	Perfect	NC_000019.10:g.(55 019177_55019183)_( 55019855_55019857) dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	55,019,180 (-3, +3)	55,019,856 (-1, +1)
nssv16390540	Submitted genomic		NC_000019.9:g.(555 30545_55530551)_(5 5531223_55531225)d up	GRCh37 (hg19)		NC_000019.9	Chr19	55,530,548 (-3, +3)	55,531,224 (-1, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16390540	0.042	702	16834

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