Variant Details

Variant: nsv3113482

Internal ID

21296748

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:30084859..30090610	hg38	UCSC Ensembl
Inner	chr12:30237792..30243543	hg19	UCSC Ensembl

Cytoband

12p11.22

Allele length

Assembly	Allele length
hg38	5752
hg19	5752

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv241n145

Supporting Variants

nssv14093917, nssv14090327, nssv14092564, nssv14091312, nssv14092722, nssv14093838, nssv14091420, nssv14092553, nssv14093805, nssv14092680, nssv14092439, nssv14093860, nssv14091503, nssv14092711, nssv14093759, nssv14092689, nssv14091248, nssv14092790, nssv14091222, nssv14092850, nssv14091479, nssv14092778, nssv14091570, nssv14091444, nssv14092444, nssv14092676, nssv14093298, nssv14093869, nssv14091548, nssv14091346, nssv14093811, nssv14092598, nssv14092585, nssv14092418, nssv14091597, nssv14091451, nssv14091647, nssv14092474, nssv14092901, nssv14091666, nssv14092868, nssv14091363, nssv14093938, nssv14091557, nssv14093772, nssv14091397, nssv14092773, nssv14093925, nssv14092402, nssv14092452, nssv14092415, nssv14092608, nssv14090348, nssv14092497, nssv14093692, nssv14092730, nssv14092943, nssv14091302, nssv14092459, nssv14091636, nssv14092640, nssv14092506, nssv14091472, nssv14091414, nssv14092932, nssv14092882, nssv14093906, nssv14092820, nssv14090339, nssv14091592, nssv14091694, nssv14093756

Samples

sample322, sample100, sample425, sample122, sample70, sample123, sample90, sample239, sample303, sample328, sample80, sample380, sample359, sample266, sample222, sample69, sample167, sample180, sample9, sample40, sample3, sample218, sample361, sample52, sample42, sample358, sample208, sample312, sample88, sample95, sample143, sample128, sample414, sample29, sample31, sample390, sample108, sample403, sample300, sample111, sample407, sample25, sample290, sample287, sample79, sample137, sample296, sample6, sample148, sample253, sample112, sample245, sample47, sample331, sample368, sample210, sample73, sample259, sample250, sample234, sample188, sample155, sample238, sample321, sample371, sample410, sample46, sample386, sample246, sample268, sample163, sample150

Known Genes

Method

Oligo aCGH

Analysis

Platform

Comments

Reference

Lu_et_al_2017

Pubmed ID

28705883

Accession Number(s)

nsv3113482

Frequency

Sample Size	467
Observed Gain	0
Observed Loss	72
Observed Complex	0
Frequency	n/a