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dbVar

Database of genomic structural variation

nsv4684081

Organism: Homo sapiens

Study:nstd193 (Teekakirikul et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:5
Validation:Yes
Clinical Assertions: No
Region Size:14,676

Publication(s):Teekakirikul et al. 2021

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: 780 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):140,834,789-140,849,464

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
nsv4684081	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	140,834,789	140,835,434	140,848,837	140,849,464
nsv4684081	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	140,214,374	140,215,019	140,228,422	140,229,049

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Zygosity
nssv16215102	deletion	7119_PCDHA	Sequencing	Read depth and paired-end mapping	1	Heterozygous
nssv16215103	deletion	7408_PCDHA	Sequencing	Read depth and paired-end mapping	1	Heterozygous
nssv16215104	deletion	7432_PCDHA	Sequencing	Read depth and paired-end mapping	1	Heterozygous
nssv16215105	deletion	7592_PCDHA	Sequencing	Read depth and paired-end mapping	1	Heterozygous
nssv16215106	deletion	7693_PCDHA	Sequencing	Read depth and paired-end mapping	1	Heterozygous

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16215102	Remapped	Perfect	NC_000005.10:g.(14 0834789_140835434) _(140848837_140849 464)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	140,834,789	140,835,434	140,848,837	140,849,464
nssv16215103	Remapped	Perfect	NC_000005.10:g.(14 0834789_140835434) _(140848837_140849 464)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	140,834,789	140,835,434	140,848,837	140,849,464
nssv16215104	Remapped	Perfect	NC_000005.10:g.(14 0834789_140835434) _(140848837_140849 464)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	140,834,789	140,835,434	140,848,837	140,849,464
nssv16215105	Remapped	Perfect	NC_000005.10:g.(14 0834789_140835434) _(140848837_140849 464)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	140,834,789	140,835,434	140,848,837	140,849,464
nssv16215106	Remapped	Perfect	NC_000005.10:g.(14 0834789_140835434) _(140848837_140849 464)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	140,834,789	140,835,434	140,848,837	140,849,464
nssv16215102	Submitted genomic		NC_000005.9:g.(140 214374_140215019)_ (140228422_1402290 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	140,214,374	140,215,019	140,228,422	140,229,049
nssv16215103	Submitted genomic		NC_000005.9:g.(140 214374_140215019)_ (140228422_1402290 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	140,214,374	140,215,019	140,228,422	140,229,049
nssv16215104	Submitted genomic		NC_000005.9:g.(140 214374_140215019)_ (140228422_1402290 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	140,214,374	140,215,019	140,228,422	140,229,049
nssv16215105	Submitted genomic		NC_000005.9:g.(140 214374_140215019)_ (140228422_1402290 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	140,214,374	140,215,019	140,228,422	140,229,049
nssv16215106	Submitted genomic		NC_000005.9:g.(140 214374_140215019)_ (140228422_1402290 49)del	GRCh37 (hg19)		NC_000005.9	Chr5	140,214,374	140,215,019	140,228,422	140,229,049

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv16215102	1	7119_PCDHA	PCR	Genotyping	Pass
nssv16215103	1	7408_PCDHA	PCR	Genotyping	Pass
nssv16215104	1	7432_PCDHA	PCR	Genotyping	Pass
nssv16215105	1	7592_PCDHA	PCR	Genotyping	Pass
nssv16215106	1	7693_PCDHA	PCR	Genotyping	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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