Variant Details

Variant: nsv3170310

Internal ID

21314371

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:65660459..65697317	hg38	UCSC Ensembl
Outer	chr6:65653712..65698582	hg38	UCSC Ensembl
Inner	chr6:66370352..66407210	hg19	UCSC Ensembl
Outer	chr6:66363605..66408475	hg19	UCSC Ensembl
Inner	chr6:66427073..66463931	hg18	UCSC Ensembl
Outer	chr6:66420326..66465196	hg18	UCSC Ensembl

Cytoband

6q12

Allele length

Assembly	Allele length
hg38	44871
hg19	44871
hg18	44871

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv14252448, nssv14246036, nssv14248494, nssv14249764, nssv14248629, nssv14249234, nssv14248932, nssv14244665, nssv14242394, nssv14250636, nssv14241703, nssv14250858, nssv14245571, nssv14251782, nssv14242302, nssv14247131, nssv14252118, nssv14248791, nssv14246236, nssv14251437, nssv14248292, nssv14243780, nssv14249504, nssv14247410, nssv14249597, nssv14241525, nssv14246700, nssv14244802, nssv14248176, nssv14242285, nssv14252526, nssv14251693, nssv14242886, nssv14246292, nssv14247940, nssv14249969, nssv14242048, nssv14248592, nssv14245622, nssv14251978, nssv14251079, nssv14242721, nssv14247695, nssv14245762, nssv14245238

Samples

MLY_15, NGO_3, NGO_22, SNI_2, NGO_27, SNI_13, SNI_11, MLY_11, NGO_41, MLY_17, NGO_28, MLY_12, NGO_53, SNI_7, NGO_32, NGO_10, NGO_46, NGO_45, NGO_4, NGO_17, NGO_43, NGO_54, NGO_24, PML_3, SNI_1, NGO_47, NGO_40, PML_2, SNI_16, NGO_25, NGO_33, MLY_3, SNI_3, NGO_52, NGO_36, SNI_5, NGO_49, SNI_15, NGO_42, NGO_8, NGO_44, SNI_14, NGO_11, NGO_51, SNI_4

Known Genes

EYS

Method

SNP array

Analysis

Platform

Affymetrix Genome-wide SNP array 6.0

Comments

Reference

Fu_et_al_2018

Pubmed ID

29476164

Accession Number(s)

nsv3170310

Frequency

Sample Size	93
Observed Gain	0
Observed Loss	45
Observed Complex	0
Frequency	n/a