A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv14245470

Internal ID

21309584

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:36202820..36205827	hg38	UCSC Ensembl
Outer	chr14:36200198..36210414	hg38	UCSC Ensembl
Inner	chr14:36672026..36675033	hg19	UCSC Ensembl
Outer	chr14:36669404..36679620	hg19	UCSC Ensembl
Inner	chr14:35741777..35744784	hg18	UCSC Ensembl
Outer	chr14:35739155..35749371	hg18	UCSC Ensembl

Cytoband

14q13.3

Allele length

Assembly	Allele length
hg38	10217
hg19	10217
hg18	10217

Variant Type

CNV duplication

Copy Number

4

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

S

Merged Variants

Supporting Variants

Samples

NGO_51

Known Genes

Method

SNP array

Analysis

Platform

Affymetrix Genome-wide SNP array 6.0

Comments

Reference

Fu_et_al_2018

Pubmed ID

Accession Number(s)

Frequency

Sample Size	93
Observed Gain	1
Observed Loss	0
Observed Complex	0
Frequency	n/a